Canonical Allele Identifier: CA415858907

Gene: CA6

Linked Data

• dbSNP Id: rs1271438910
• gnomAD v2: 1-9017314-C-T
• gnomAD v4: 1-8957255-C-T
• MyVariant Identifiers: chr1:g.9017314C>T (hg19) ; chr1:g.8957255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957255C>T , CM000663.2:g.8957255C>T	GRCh38
NC_000001.10:g.9017314C>T , CM000663.1:g.9017314C>T	GRCh37
NC_000001.9:g.8939901C>T	NCBI36
NG_033975.1:g.16422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.378C>T MANE Select	ENSP00000366662.2:p.His126=
ENST00000377436.6:c.378C>T	ENSP00000366654.3:p.His126=
ENST00000377442.3:c.198C>T	ENSP00000366661.2:p.His66=
ENST00000377443.6:c.378C>T	ENSP00000366662.2:p.His126=
ENST00000476083.1:n.99-1655C>T
ENST00000549778.5:c.282C>T	ENSP00000447108.1:p.His94=
NM_001215.3:c.378C>T	NP_001206.2:p.His126=
NM_001270500.1:c.378C>T	NP_001257429.1:p.His126=
NM_001270501.1:c.198C>T	NP_001257430.1:p.His66=
NM_001270502.1:c.25-1655C>T	NP_001257431.1:n.25-1655C>T
XM_011542083.1:c.390C>T	XP_011540385.1:p.His130=
XM_011542084.1:c.390C>T	XP_011540386.1:p.His130=
XM_011542083.3:c.390C>T	XP_011540385.1:p.His130=
XM_011542084.3:c.390C>T	XP_011540386.1:p.His130=
NM_001215.4:c.378C>T MANE Select	NP_001206.2:p.His126=
NM_001270500.2:c.378C>T	NP_001257429.1:p.His126=
NM_001270501.2:c.198C>T	NP_001257430.1:p.His66=
NM_001270502.2:c.25-1655C>T	NP_001257431.1:n.25-1655C>T