Canonical Allele Identifier: CA2141919949

Gene: KCNH5

Linked Data

• dbSNP Id: rs8012941

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.62855629A>C , CM000676.2:g.62855629A>C	GRCh38
NC_000014.8:g.63322347A>C , CM000676.1:g.63322347A>C	GRCh37
NC_000014.7:g.62392100A>C	NCBI36
NG_034062.1:g.194610T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322893.12:c.1370-5777T>G MANE Select	ENSP00000321427.7:n.1370-5777T>G
ENST00000322893.11:c.1370-5777T>G	ENSP00000321427.7:n.1370-5777T>G
ENST00000394968.2:c.1196-5777T>G	ENSP00000378419.1:n.1196-5777T>G
ENST00000420622.6:c.1370-5777T>G	ENSP00000395439.2:n.1370-5777T>G
NM_139318.4:c.1370-5777T>G	NP_647479.2:n.1370-5777T>G
NM_172375.2:c.1370-5777T>G	NP_758963.1:n.1370-5777T>G
XM_011536658.1:c.1370-5777T>G	XP_011534960.1:n.1370-5777T>G
NM_139318.5:c.1370-5777T>G MANE Select	NP_647479.2:n.1370-5777T>G
NM_172375.3:c.1370-5777T>G	NP_758963.1:n.1370-5777T>G