Canonical Allele Identifier: CA379131700

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1001293702
• gnomAD v4: 11-2572964-C-G
• MyVariant Identifiers: chr11:g.2594194C>G (hg19) ; chr11:g.2572964C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572964C>G , CM000673.2:g.2572964C>G	GRCh38
NC_000011.9:g.2594194C>G , CM000673.1:g.2594194C>G	GRCh37
NC_000011.8:g.2550770C>G	NCBI36
NG_008935.1:g.132974C>G , LRG_287:g.132974C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.638C>G	ENSP00000434560.2:p.Ala213Gly
ENST00000646564.2:c.478-10471C>G	ENSP00000495806.2:n.478-10471C>G
ENST00000155840.12:c.899C>G MANE Select	ENSP00000155840.2:p.Ala300Gly
ENST00000335475.6:c.518C>G	ENSP00000334497.5:p.Ala173Gly
ENST00000646564.1:c.124-10471C>G	ENSP00000495806.1:n.124-10471C>G
ENST00000155840.9:c.899C>G	ENSP00000155840.2:p.Ala300Gly
ENST00000335475.5:c.518C>G	ENSP00000334497.5:p.Ala173Gly
NM_000218.2:c.899C>G , LRG_287t1:c.899C>G	NP_000209.2:p.Ala300Gly
NM_181798.1:c.518C>G , LRG_287t2:c.518C>G	NP_861463.1:p.Ala173Gly
NM_000218.3:c.899C>G MANE Select	NP_000209.2:p.Ala300Gly