Canonical Allele Identifier: CA13961872

Gene: KCNH5

Linked Data

• dbSNP Id: rs8012941
• gnomAD v2: 14-63322347-A-G
• gnomAD v3: 14-62855629-A-G
• gnomAD v4: 14-62855629-A-G
• MyVariant Identifiers: chr14:g.63322347A>G (hg19) ; chr14:g.62855629A>G (hg38)

Genomic Alleles

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

Transcript Alleles

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