Canonical Allele Identifier: CA472459447

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2768877-C-A
• MyVariant Identifiers: chr11:g.2790107C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768877C>A , CM000673.2:g.2768877C>A	GRCh38
NC_000011.9:g.2790107C>A , CM000673.1:g.2790107C>A	GRCh37
NC_000011.8:g.2746683C>A	NCBI36
NG_008935.1:g.328887C>A , LRG_287:g.328887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1191C>A	ENSP00000434560.2:p.Val397=
ENST00000646564.2:c.1008C>A	ENSP00000495806.2:p.Val336=
ENST00000155840.12:c.1548C>A MANE Select	ENSP00000155840.2:p.Val516=
ENST00000335475.6:c.1167C>A	ENSP00000334497.5:p.Val389=
ENST00000646564.1:c.654C>A	ENSP00000495806.1:p.Val218=
ENST00000155840.9:c.1548C>A	ENSP00000155840.2:p.Val516=
ENST00000335475.5:c.1167C>A	ENSP00000334497.5:p.Val389=
NM_000218.2:c.1548C>A , LRG_287t1:c.1548C>A	NP_000209.2:p.Val516=
NM_181798.1:c.1167C>A , LRG_287t2:c.1167C>A	NP_861463.1:p.Val389=
NM_000218.3:c.1548C>A MANE Select	NP_000209.2:p.Val516=