Canonical Allele Identifier: CA177912

Gene: SERPINB6

Linked Data

• ClinVar Variation Id: 165191
• ClinVar RCV Id: RCV000151838 ; RCV000844291 ; RCV001731398
• dbSNP Id: rs201080069
• ExAC: 6:2954823 C / T
• gnomAD v2: 6-2954823-C-T
• gnomAD v3: 6-2954589-C-T
• gnomAD v4: 6-2954589-C-T
• MyVariant Identifiers: chr6:g.2954823C>T (hg19) ; chr6:g.2954589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.2954589C>T , CM000668.2:g.2954589C>T	GRCh38
NC_000006.11:g.2954823C>T , CM000668.1:g.2954823C>T	GRCh37
NC_000006.10:g.2899822C>T	NCBI36
NG_027692.1:g.22577G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380520.6:c.430+3G>A	ENSP00000369891.1:n.430+3G>A
ENST00000380539.7:c.430+3G>A MANE Select	ENSP00000369912.2:n.430+3G>A
ENST00000612421.3:c.487+3G>A	ENSP00000484343.1:n.487+3G>A
ENST00000616722.4:c.442+3G>A	ENSP00000481398.1:n.442+3G>A
ENST00000642543.1:c.298+3G>A	ENSP00000494161.1:n.298+3G>A
ENST00000643098.1:c.430+3G>A	ENSP00000493936.1:n.430+3G>A
ENST00000643314.1:n.2425+3G>A
ENST00000644178.1:c.430+3G>A	ENSP00000496073.1:n.430+3G>A
ENST00000644388.1:c.430+3G>A	ENSP00000494650.1:n.430+3G>A
ENST00000644693.1:c.*303+3G>A	ENSP00000495361.1:n.*303+3G>A
ENST00000644697.1:n.1291+3G>A
ENST00000644828.1:c.268+3G>A	ENSP00000495086.1:n.268+3G>A
ENST00000645580.1:c.442+3G>A	ENSP00000495362.1:n.442+3G>A
ENST00000646722.1:n.1349+3G>A
ENST00000647157.1:n.2764+3G>A
ENST00000649845.1:c.*544+3G>A	ENSP00000497149.1:n.*544+3G>A
ENST00000335686.9:c.430+3G>A	ENSP00000338358.5:n.430+3G>A
ENST00000380520.5:c.430+3G>A	ENSP00000369891.1:n.430+3G>A
ENST00000380524.5:c.430+3G>A	ENSP00000369896.1:n.430+3G>A
ENST00000380529.5:c.430+3G>A	ENSP00000369901.1:n.430+3G>A
ENST00000380539.5:c.430+3G>A	ENSP00000369912.1:n.430+3G>A
ENST00000380546.7:c.430+3G>A	ENSP00000369919.3:n.430+3G>A
ENST00000612421.2:c.487+3G>A	ENSP00000484343.1:n.487+3G>A
ENST00000616722.3:c.442+3G>A	ENSP00000481398.1:n.442+3G>A
NM_001195291.2:c.442+3G>A	NP_001182220.2:n.442+3G>A
NM_001271822.1:c.472+3G>A	NP_001258751.1:n.472+3G>A
NM_001271823.1:c.487+3G>A	NP_001258752.1:n.487+3G>A
NM_001271824.1:c.430+3G>A	NP_001258753.1:n.430+3G>A
NM_001271825.1:c.430+3G>A	NP_001258754.1:n.430+3G>A
NM_001297699.1:c.430+3G>A	NP_001284628.1:n.430+3G>A
NM_001297700.1:c.430+3G>A	NP_001284629.1:n.430+3G>A
NM_004568.5:c.430+3G>A	NP_004559.4:n.430+3G>A
XM_011514672.1:c.664+3G>A	XP_011512974.1:n.664+3G>A
XM_011514673.1:c.430+3G>A	XP_011512975.1:n.430+3G>A
XM_011514674.1:c.430+3G>A	XP_011512976.1:n.430+3G>A
XM_011514675.1:c.298+3G>A	XP_011512977.1:n.298+3G>A
XM_011514676.1:c.298+3G>A	XP_011512978.1:n.298+3G>A
XM_011514674.2:c.430+3G>A	XP_011512976.1:n.430+3G>A
XM_011514676.2:c.298+3G>A	XP_011512978.1:n.298+3G>A
XM_017010940.1:c.442+3G>A	XP_016866429.1:n.442+3G>A
XM_017010941.1:c.298+3G>A	XP_016866430.1:n.298+3G>A
XM_024446462.1:c.442+3G>A	XP_024302230.1:n.442+3G>A
XM_024446463.1:c.442+3G>A	XP_024302231.1:n.442+3G>A
XM_024446464.1:c.430+3G>A	XP_024302232.1:n.430+3G>A
XM_024446465.1:c.298+3G>A	XP_024302233.1:n.298+3G>A
NM_001195291.3:c.442+3G>A	NP_001182220.2:n.442+3G>A
NM_001271822.2:c.472+3G>A	NP_001258751.1:n.472+3G>A
NM_001271823.2:c.487+3G>A	NP_001258752.1:n.487+3G>A
NM_001271824.2:c.430+3G>A	NP_001258753.1:n.430+3G>A
NM_001271825.2:c.430+3G>A	NP_001258754.1:n.430+3G>A
NM_001297699.2:c.430+3G>A	NP_001284628.1:n.430+3G>A
NM_001297700.2:c.430+3G>A	NP_001284629.1:n.430+3G>A
NM_001374515.1:c.442+3G>A	NP_001361444.1:n.442+3G>A
NM_001374516.1:c.430+3G>A	NP_001361445.1:n.430+3G>A
NM_001374517.1:c.298+3G>A	NP_001361446.1:n.298+3G>A
NM_004568.6:c.430+3G>A MANE Select	NP_004559.4:n.430+3G>A
NR_164657.1:n.475+3G>A