Canonical Allele Identifier: CA228965

Gene: KCNH5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.62950522C>T , CM000676.2:g.62950522C>T	GRCh38
NC_000014.8:g.63417240C>T , CM000676.1:g.63417240C>T	GRCh37
NC_000014.7:g.62486993C>T	NCBI36
NG_034062.1:g.99717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322893.12:c.980G>A MANE Select	ENSP00000321427.7:p.Arg327His
ENST00000322893.11:c.980G>A	ENSP00000321427.7:p.Arg327His
ENST00000394964.3:n.1145G>A
ENST00000394968.2:c.806G>A	ENSP00000378419.1:p.Arg269His
ENST00000420622.6:c.980G>A	ENSP00000395439.2:p.Arg327His
NM_139318.4:c.980G>A	NP_647479.2:p.Arg327His
NM_172375.2:c.980G>A	NP_758963.1:p.Arg327His
XM_011536658.1:c.980G>A	XP_011534960.1:p.Arg327His
NM_139318.5:c.980G>A MANE Select	NP_647479.2:p.Arg327His
NM_172375.3:c.980G>A	NP_758963.1:p.Arg327His