Canonical Allele Identifier: CA37137661

Gene: KCNH1

Linked Data

• dbSNP Id: rs909039063
• gnomAD v2: 1-211093376-G-A
• gnomAD v4: 1-210920034-G-A
• MyVariant Identifiers: chr1:g.211093376G>A (hg19) ; chr1:g.210920034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920034G>A , CM000663.2:g.210920034G>A	GRCh38
NC_000001.10:g.211093376G>A , CM000663.1:g.211093376G>A	GRCh37
NC_000001.9:g.209159999G>A	NCBI36
NG_029777.1:g.219082C>T
NG_029777.2:g.219082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1068C>T MANE Select	ENSP00000271751.4:p.Val356=
ENST00000367007.5:c.987C>T	ENSP00000355974.5:p.Val329=
ENST00000638357.1:c.401C>T
ENST00000638498.1:c.1068C>T	ENSP00000490983.1:p.Val356=
ENST00000638960.1:c.987C>T	ENSP00000492302.1:p.Val329=
ENST00000638983.1:c.952-58840C>T	ENSP00000492641.1:n.952-58840C>T
ENST00000639385.1:n.436C>T
ENST00000639602.1:c.858C>T	ENSP00000492303.1:p.Val286=
ENST00000639754.1:n.1271C>T
ENST00000639952.1:c.987C>T	ENSP00000492697.1:p.Val329=
ENST00000640044.1:c.311-115868C>T	ENSP00000491434.1:n.311-115868C>T
ENST00000640243.1:c.951+98830C>T	ENSP00000492803.1:n.951+98830C>T
ENST00000640522.1:c.1032+98749C>T	ENSP00000491019.1:n.1032+98749C>T
ENST00000640528.1:c.987C>T	ENSP00000491725.1:p.Val329=
ENST00000640566.1:c.311-144490C>T	ENSP00000491302.1:n.311-144490C>T
ENST00000640710.1:c.987C>T	ENSP00000492513.1:p.Val329=
ENST00000640890.1:n.1089C>T
ENST00000271751.8:c.1068C>T	ENSP00000271751.4:p.Val356=
ENST00000367007.4:c.987C>T	ENSP00000355974.4:p.Val329=
NM_002238.3:c.987C>T	NP_002229.1:p.Val329=
NM_172362.2:c.1068C>T	NP_758872.1:p.Val356=
XM_011509514.1:c.-109C>T	XP_011507816.1:n.-109C>T
XM_017001246.1:c.-109C>T	XP_016856735.1:n.-109C>T
NM_172362.3:c.1068C>T MANE Select	NP_758872.1:p.Val356=
NM_002238.4:c.987C>T	NP_002229.1:p.Val329=