Canonical Allele Identifier: CA17706892

Gene: CA6

Linked Data

• ClinVar Variation Id: 2543077
• ClinVar RCV Id: RCV004316549
• dbSNP Id: rs868621242
• gnomAD v2: 1-9017318-G-A
• gnomAD v3: 1-8957259-G-A
• gnomAD v4: 1-8957259-G-A
• MyVariant Identifiers: chr1:g.9017318G>A (hg19) ; chr1:g.8957259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957259G>A , CM000663.2:g.8957259G>A	GRCh38
NC_000001.10:g.9017318G>A , CM000663.1:g.9017318G>A	GRCh37
NC_000001.9:g.8939905G>A	NCBI36
NG_033975.1:g.16426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.382G>A MANE Select	ENSP00000366662.2:p.Val128Met
ENST00000377436.6:c.382G>A	ENSP00000366654.3:p.Val128Met
ENST00000377442.3:c.202G>A	ENSP00000366661.2:p.Val68Met
ENST00000377443.6:c.382G>A	ENSP00000366662.2:p.Val128Met
ENST00000476083.1:n.99-1651G>A
ENST00000549778.5:c.286G>A	ENSP00000447108.1:p.Val96Met
NM_001215.3:c.382G>A	NP_001206.2:p.Val128Met
NM_001270500.1:c.382G>A	NP_001257429.1:p.Val128Met
NM_001270501.1:c.202G>A	NP_001257430.1:p.Val68Met
NM_001270502.1:c.25-1651G>A	NP_001257431.1:n.25-1651G>A
XM_011542083.1:c.394G>A	XP_011540385.1:p.Val132Met
XM_011542084.1:c.394G>A	XP_011540386.1:p.Val132Met
XM_011542083.3:c.394G>A	XP_011540385.1:p.Val132Met
XM_011542084.3:c.394G>A	XP_011540386.1:p.Val132Met
NM_001215.4:c.382G>A MANE Select	NP_001206.2:p.Val128Met
NM_001270500.2:c.382G>A	NP_001257429.1:p.Val128Met
NM_001270501.2:c.202G>A	NP_001257430.1:p.Val68Met
NM_001270502.2:c.25-1651G>A	NP_001257431.1:n.25-1651G>A