Canonical Allele Identifier: CA178119088

Gene: CA8

Linked Data

• dbSNP Id: rs571589039
• gnomAD v3: 8-60192587-G-A
• MyVariant Identifiers: chr8:g.61105146G>A (hg19) ; chr8:g.60192587G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60192587G>A , CM000670.2:g.60192587G>A	GRCh38
NC_000008.10:g.61105146G>A , CM000670.1:g.61105146G>A	GRCh37
NC_000008.9:g.61267700G>A	NCBI36
NG_023193.1:g.93809C>T
NG_023193.2:g.93809C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317995.5:c.*36-2602C>T MANE Select	ENSP00000314407.4:n.*36-2602C>T
ENST00000317995.4:c.*36-2602C>T	ENSP00000314407.4:n.*36-2602C>T
NM_004056.4:c.*36-2602C>T	NP_004047.3:n.*36-2602C>T
XM_011517586.1:c.*36-2602C>T	XP_011515888.1:n.*36-2602C>T
NM_001321839.1:c.*36-2602C>T	NP_001308768.1:n.*36-2602C>T
NM_004056.5:c.*36-2602C>T	NP_004047.3:n.*36-2602C>T
NR_135821.1:n.1235-2602C>T
XM_017013818.1:c.*36-2602C>T	XP_016869307.1:n.*36-2602C>T
NM_004056.6:c.*36-2602C>T MANE Select	NP_004047.3:n.*36-2602C>T
NM_001321839.2:c.*36-2602C>T	NP_001308768.1:n.*36-2602C>T
NR_135821.2:n.1212-2602C>T