Canonical Allele Identifier: CA178119087

Gene: CA8

Linked Data

• dbSNP Id: rs181595637
• gnomAD v2: 8-61105145-C-T
• gnomAD v3: 8-60192586-C-T
• gnomAD v4: 8-60192586-C-T
• MyVariant Identifiers: chr8:g.61105145C>T (hg19) ; chr8:g.60192586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60192586C>T , CM000670.2:g.60192586C>T	GRCh38
NC_000008.10:g.61105145C>T , CM000670.1:g.61105145C>T	GRCh37
NC_000008.9:g.61267699C>T	NCBI36
NG_023193.1:g.93810G>A
NG_023193.2:g.93810G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317995.5:c.*36-2601G>A MANE Select	ENSP00000314407.4:n.*36-2601G>A
ENST00000317995.4:c.*36-2601G>A	ENSP00000314407.4:n.*36-2601G>A
NM_004056.4:c.*36-2601G>A	NP_004047.3:n.*36-2601G>A
XM_011517586.1:c.*36-2601G>A	XP_011515888.1:n.*36-2601G>A
NM_001321839.1:c.*36-2601G>A	NP_001308768.1:n.*36-2601G>A
NM_004056.5:c.*36-2601G>A	NP_004047.3:n.*36-2601G>A
NR_135821.1:n.1235-2601G>A
XM_017013818.1:c.*36-2601G>A	XP_016869307.1:n.*36-2601G>A
NM_004056.6:c.*36-2601G>A MANE Select	NP_004047.3:n.*36-2601G>A
NM_001321839.2:c.*36-2601G>A	NP_001308768.1:n.*36-2601G>A
NR_135821.2:n.1212-2601G>A