Canonical Allele Identifier: CA15926307

Gene: SERPINB7

Linked Data

• dbSNP Id: rs1055901
• gnomAD v2: 18-61472455-T-C
• gnomAD v3: 18-63805221-T-C
• gnomAD v4: 18-63805221-T-C
• MyVariant Identifiers: chr18:g.61472455T>C (hg19) ; chr18:g.63805221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63805221T>C , CM000680.2:g.63805221T>C	GRCh38
NC_000018.9:g.61472455T>C , CM000680.1:g.61472455T>C	GRCh37
NC_000018.8:g.59623435T>C	NCBI36
NG_034150.1:g.57175T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000398019.7:c.*586T>C MANE Select	ENSP00000381101.2:n.*586T>C
ENST00000336429.6:c.*586T>C	ENSP00000337212.2:n.*586T>C
ENST00000398019.6:c.*586T>C	ENSP00000381101.2:n.*586T>C
ENST00000540675.5:c.*586T>C	ENSP00000444572.1:n.*586T>C
ENST00000546027.5:c.*586T>C	ENSP00000444861.1:n.*586T>C
NM_001040147.2:c.*586T>C	NP_001035237.1:n.*586T>C
NM_001261830.1:c.*586T>C	NP_001248759.1:n.*586T>C
NM_001261831.1:c.*586T>C	NP_001248760.1:n.*586T>C
NM_003784.3:c.*586T>C	NP_003775.1:n.*586T>C
XM_006722562.1:c.*586T>C	XP_006722625.1:n.*586T>C
XM_011526236.1:c.*586T>C	XP_011524538.1:n.*586T>C
XM_024451278.1:c.*586T>C	XP_024307046.1:n.*586T>C
NM_003784.4:c.*586T>C MANE Select	NP_003775.1:n.*586T>C
NM_001040147.3:c.*586T>C	NP_001035237.1:n.*586T>C
NM_001261830.2:c.*586T>C	NP_001248759.1:n.*586T>C
NM_001261831.2:c.*586T>C	NP_001248760.1:n.*586T>C