Canonical Allele Identifier: CA1114403769

Gene: CA8

Linked Data

• dbSNP Id: rs1270750092
• gnomAD v3: 8-60192424-T-C
• gnomAD v4: 8-60192424-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60192424T>C , CM000670.2:g.60192424T>C	GRCh38
NC_000008.10:g.61104983T>C , CM000670.1:g.61104983T>C	GRCh37
NC_000008.9:g.61267537T>C	NCBI36
NG_023193.1:g.93972A>G
NG_023193.2:g.93972A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317995.5:c.*36-2439A>G MANE Select	ENSP00000314407.4:n.*36-2439A>G
ENST00000317995.4:c.*36-2439A>G	ENSP00000314407.4:n.*36-2439A>G
NM_004056.4:c.*36-2439A>G	NP_004047.3:n.*36-2439A>G
XM_011517586.1:c.*36-2439A>G	XP_011515888.1:n.*36-2439A>G
NM_001321839.1:c.*36-2439A>G	NP_001308768.1:n.*36-2439A>G
NM_004056.5:c.*36-2439A>G	NP_004047.3:n.*36-2439A>G
NR_135821.1:n.1235-2439A>G
XM_017013818.1:c.*36-2439A>G	XP_016869307.1:n.*36-2439A>G
NM_004056.6:c.*36-2439A>G MANE Select	NP_004047.3:n.*36-2439A>G
NM_001321839.2:c.*36-2439A>G	NP_001308768.1:n.*36-2439A>G
NR_135821.2:n.1212-2439A>G