Canonical Allele Identifier: CA7217603

Gene: KCNH5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.62981081T>C , CM000676.2:g.62981081T>C	GRCh38
NC_000014.8:g.63447799T>C , CM000676.1:g.63447799T>C	GRCh37
NC_000014.7:g.62517552T>C	NCBI36
NG_034062.1:g.69158A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_139318.5:c.733A>G MANE Select	NP_647479.2:p.Ile245Val
ENST00000322893.12:c.733A>G MANE Select	ENSP00000321427.7:p.Ile245Val
NM_139318.4:c.733A>G	NP_647479.2:p.Ile245Val
NM_172375.2:c.733A>G	NP_758963.1:p.Ile245Val
NM_172375.3:c.733A>G	NP_758963.1:p.Ile245Val
ENST00000322893.11:c.733A>G	ENSP00000321427.7:p.Ile245Val
ENST00000394964.3:n.898A>G
ENST00000394968.2:c.559A>G	ENSP00000378419.1:p.Ile187Val
ENST00000420622.6:c.733A>G	ENSP00000395439.2:p.Ile245Val
XM_011536658.1:c.733A>G	XP_011534960.1:p.Ile245Val