Canonical Allele Identifier: CA991131502

Gene: SERPINB7

Linked Data

• gnomAD v3: 18-63805339-C-T
• gnomAD v4: 18-63805339-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63805339C>T , CM000680.2:g.63805339C>T	GRCh38
NC_000018.9:g.61472573C>T , CM000680.1:g.61472573C>T	GRCh37
NC_000018.8:g.59623553C>T	NCBI36
NG_034150.1:g.57293C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000398019.7:c.*704C>T MANE Select	ENSP00000381101.2:n.*704C>T
ENST00000336429.6:c.*704C>T	ENSP00000337212.2:n.*704C>T
ENST00000398019.6:c.*704C>T	ENSP00000381101.2:n.*704C>T
ENST00000540675.5:c.*704C>T	ENSP00000444572.1:n.*704C>T
ENST00000546027.5:c.*704C>T	ENSP00000444861.1:n.*704C>T
NM_001040147.2:c.*704C>T	NP_001035237.1:n.*704C>T
NM_001261830.1:c.*704C>T	NP_001248759.1:n.*704C>T
NM_001261831.1:c.*704C>T	NP_001248760.1:n.*704C>T
NM_003784.3:c.*704C>T	NP_003775.1:n.*704C>T
XM_006722562.1:c.*704C>T	XP_006722625.1:n.*704C>T
XM_011526236.1:c.*704C>T	XP_011524538.1:n.*704C>T
XM_024451278.1:c.*704C>T	XP_024307046.1:n.*704C>T
NM_003784.4:c.*704C>T MANE Select	NP_003775.1:n.*704C>T
NM_001040147.3:c.*704C>T	NP_001035237.1:n.*704C>T
NM_001261830.2:c.*704C>T	NP_001248759.1:n.*704C>T
NM_001261831.2:c.*704C>T	NP_001248760.1:n.*704C>T