Canonical Allele Identifier: CA301849925

Gene: SERPINB7

Linked Data

• dbSNP Id: rs562319691
• gnomAD v2: 18-61472416-C-A
• gnomAD v3: 18-63805182-C-A
• gnomAD v4: 18-63805182-C-A
• MyVariant Identifiers: chr18:g.61472416C>A (hg19) ; chr18:g.61472416_61472417delinsAA (hg19) ; chr18:g.63805182C>A (hg38) ; chr18:g.63805182_63805183delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63805182C>A , CM000680.2:g.63805182C>A	GRCh38
NC_000018.9:g.61472416C>A , CM000680.1:g.61472416C>A	GRCh37
NC_000018.8:g.59623396C>A	NCBI36
NG_034150.1:g.57136C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398019.7:c.*547C>A MANE Select	ENSP00000381101.2:n.*547C>A
ENST00000336429.6:c.*547C>A	ENSP00000337212.2:n.*547C>A
ENST00000398019.6:c.*547C>A	ENSP00000381101.2:n.*547C>A
ENST00000540675.5:c.*547C>A	ENSP00000444572.1:n.*547C>A
ENST00000546027.5:c.*547C>A	ENSP00000444861.1:n.*547C>A
NM_001040147.2:c.*547C>A	NP_001035237.1:n.*547C>A
NM_001261830.1:c.*547C>A	NP_001248759.1:n.*547C>A
NM_001261831.1:c.*547C>A	NP_001248760.1:n.*547C>A
NM_003784.3:c.*547C>A	NP_003775.1:n.*547C>A
XM_006722562.1:c.*547C>A	XP_006722625.1:n.*547C>A
XM_011526236.1:c.*547C>A	XP_011524538.1:n.*547C>A
XM_024451278.1:c.*547C>A	XP_024307046.1:n.*547C>A
NM_003784.4:c.*547C>A MANE Select	NP_003775.1:n.*547C>A
NM_001040147.3:c.*547C>A	NP_001035237.1:n.*547C>A
NM_001261830.2:c.*547C>A	NP_001248759.1:n.*547C>A
NM_001261831.2:c.*547C>A	NP_001248760.1:n.*547C>A