Canonical Allele Identifier: CA278625367

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2491895
• ClinVar RCV Id: RCV003196062
• dbSNP Id: rs376735995
• gnomAD v2: 16-16248765-G-T
• gnomAD v4: 16-16154908-G-T
• MyVariant Identifiers: chr16:g.16248765G>T (hg19) ; chr16:g.16154908G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154908G>T , CM000678.2:g.16154908G>T	GRCh38
NC_000016.9:g.16248765G>T , CM000678.1:g.16248765G>T	GRCh37
NC_000016.8:g.16156266G>T	NCBI36
NG_007558.2:g.73564C>A
NG_007558.3:g.73710C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.869C>A
ENST00000622290.5:c.*178C>A	ENSP00000483331.2:n.*178C>A
ENST00000205557.12:c.4006C>A MANE Select	ENSP00000205557.7:p.His1336Asn
ENST00000640696.1:c.820C>A	ENSP00000492197.1:p.His274Asn
ENST00000205557.11:c.4006C>A	ENSP00000205557.7:p.His1336Asn
ENST00000456970.6:c.3631C>A	ENSP00000405002.2:n.3631C>A
ENST00000576204.5:n.869C>A
ENST00000622290.4:c.*1215C>A	ENSP00000483331.1:n.*1215C>A
NM_001171.5:c.4006C>A	NP_001162.4:p.His1336Asn
XM_011522479.1:c.3973C>A	XP_011520781.1:p.His1325Asn
XM_011522480.1:c.3664C>A	XP_011520782.1:p.His1222Asn
XM_011522481.1:c.3664C>A	XP_011520783.1:p.His1222Asn
XR_933134.1:n.539-4873G>T
NM_001351800.1:c.3664C>A	NP_001338729.1:p.His1222Asn
NR_147784.1:n.3668C>A
XM_011522479.2:c.3973C>A	XP_011520781.1:p.His1325Asn
XM_011522481.3:c.3664C>A	XP_011520783.1:p.His1222Asn
XM_017023212.1:c.3838C>A	XP_016878701.1:p.His1280Asn
XM_024450261.1:c.4042C>A	XP_024306029.1:p.His1348Asn
NM_001171.6:c.4006C>A MANE Select	NP_001162.5:p.His1336Asn