Canonical Allele Identifier: CA338184930

Gene: CA6

Linked Data

• gnomAD v4: 1-8957280-A-G
• MyVariant Identifiers: chr1:g.9017339A>G (hg19) ; chr1:g.8957280A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957280A>G , CM000663.2:g.8957280A>G	GRCh38
NC_000001.10:g.9017339A>G , CM000663.1:g.9017339A>G	GRCh37
NC_000001.9:g.8939926A>G	NCBI36
NG_033975.1:g.16447A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.403A>G MANE Select	ENSP00000366662.2:p.Ile135Val
ENST00000377436.6:c.403A>G	ENSP00000366654.3:p.Ile135Val
ENST00000377442.3:c.223A>G	ENSP00000366661.2:p.Ile75Val
ENST00000377443.6:c.403A>G	ENSP00000366662.2:p.Ile135Val
ENST00000476083.1:n.99-1630A>G
ENST00000549778.5:c.307A>G	ENSP00000447108.1:p.Ile103Val
NM_001215.3:c.403A>G	NP_001206.2:p.Ile135Val
NM_001270500.1:c.403A>G	NP_001257429.1:p.Ile135Val
NM_001270501.1:c.223A>G	NP_001257430.1:p.Ile75Val
NM_001270502.1:c.25-1630A>G	NP_001257431.1:n.25-1630A>G
XM_011542083.1:c.415A>G	XP_011540385.1:p.Ile139Val
XM_011542084.1:c.415A>G	XP_011540386.1:p.Ile139Val
XM_011542083.3:c.415A>G	XP_011540385.1:p.Ile139Val
XM_011542084.3:c.415A>G	XP_011540386.1:p.Ile139Val
NM_001215.4:c.403A>G MANE Select	NP_001206.2:p.Ile135Val
NM_001270500.2:c.403A>G	NP_001257429.1:p.Ile135Val
NM_001270501.2:c.223A>G	NP_001257430.1:p.Ile75Val
NM_001270502.2:c.25-1630A>G	NP_001257431.1:n.25-1630A>G