Canonical Allele Identifier: CA344874585

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.210977497C>A (hg19) ; chr1:g.210804155C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804155C>A , CM000663.2:g.210804155C>A	GRCh38
NC_000001.10:g.210977497C>A , CM000663.1:g.210977497C>A	GRCh37
NC_000001.9:g.209044120C>A	NCBI36
NG_029777.1:g.334961G>T
NG_029777.2:g.334961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1474G>T MANE Select	ENSP00000271751.4:p.Ala492Ser
ENST00000367007.5:c.1393G>T	ENSP00000355974.5:p.Ala465Ser
ENST00000638357.1:c.807G>T
ENST00000638498.1:c.1474G>T	ENSP00000490983.1:p.Ala492Ser
ENST00000638960.1:c.1393G>T	ENSP00000492302.1:p.Ala465Ser
ENST00000639952.1:c.1393G>T	ENSP00000492697.1:p.Ala465Ser
ENST00000640044.1:c.322G>T	ENSP00000491434.1:p.Ala108Ser
ENST00000640243.1:c.963G>T	ENSP00000492803.1:p.Met321Ile
ENST00000640522.1:c.1044G>T	ENSP00000491019.1:p.Met348Ile
ENST00000640528.1:c.1393G>T	ENSP00000491725.1:p.Ala465Ser
ENST00000640566.1:c.311-28611G>T	ENSP00000491302.1:n.311-28611G>T
ENST00000640710.1:c.1393G>T	ENSP00000492513.1:p.Ala465Ser
ENST00000271751.8:c.1474G>T	ENSP00000271751.4:p.Ala492Ser
ENST00000367007.4:c.1393G>T	ENSP00000355974.4:p.Ala465Ser
NM_002238.3:c.1393G>T	NP_002229.1:p.Ala465Ser
NM_172362.2:c.1474G>T	NP_758872.1:p.Ala492Ser
XM_011509514.1:c.298G>T	XP_011507816.1:p.Ala100Ser
XM_017001246.1:c.298G>T	XP_016856735.1:p.Ala100Ser
NM_172362.3:c.1474G>T MANE Select	NP_758872.1:p.Ala492Ser
NM_002238.4:c.1393G>T	NP_002229.1:p.Ala465Ser