Canonical Allele Identifier: CA178119085

Gene: CA8

Linked Data

• dbSNP Id: rs988787804
• gnomAD v3: 8-60192564-T-G
• gnomAD v4: 8-60192564-T-G
• MyVariant Identifiers: chr8:g.61105123T>G (hg19) ; chr8:g.60192564T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60192564T>G , CM000670.2:g.60192564T>G	GRCh38
NC_000008.10:g.61105123T>G , CM000670.1:g.61105123T>G	GRCh37
NC_000008.9:g.61267677T>G	NCBI36
NG_023193.1:g.93832A>C
NG_023193.2:g.93832A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317995.5:c.*36-2579A>C MANE Select	ENSP00000314407.4:n.*36-2579A>C
ENST00000317995.4:c.*36-2579A>C	ENSP00000314407.4:n.*36-2579A>C
NM_004056.4:c.*36-2579A>C	NP_004047.3:n.*36-2579A>C
XM_011517586.1:c.*36-2579A>C	XP_011515888.1:n.*36-2579A>C
NM_001321839.1:c.*36-2579A>C	NP_001308768.1:n.*36-2579A>C
NM_004056.5:c.*36-2579A>C	NP_004047.3:n.*36-2579A>C
NR_135821.1:n.1235-2579A>C
XM_017013818.1:c.*36-2579A>C	XP_016869307.1:n.*36-2579A>C
NM_004056.6:c.*36-2579A>C MANE Select	NP_004047.3:n.*36-2579A>C
NM_001321839.2:c.*36-2579A>C	NP_001308768.1:n.*36-2579A>C
NR_135821.2:n.1212-2579A>C