Canonical Allele Identifier: CA423145988

Gene: KCNH1

Linked Data

• dbSNP Id: rs1319300278
• gnomAD v3: 1-211019074-A-G
• gnomAD v4: 1-211019074-A-G
• MyVariant Identifiers: chr1:g.211192416A>G (hg19) ; chr1:g.211019074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211019074A>G , CM000663.2:g.211019074A>G	GRCh38
NC_000001.10:g.211192416A>G , CM000663.1:g.211192416A>G	GRCh37
NC_000001.9:g.209259039A>G	NCBI36
NG_029777.1:g.120042T>C
NG_029777.2:g.120042T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.741T>C MANE Select	ENSP00000271751.4:p.Asn247=
ENST00000367007.5:c.741T>C	ENSP00000355974.5:p.Asn247=
ENST00000638357.1:c.155T>C
ENST00000638498.1:c.741T>C	ENSP00000490983.1:p.Asn247=
ENST00000638960.1:c.741T>C	ENSP00000492302.1:p.Asn247=
ENST00000638983.1:c.741T>C	ENSP00000492641.1:p.Asn247=
ENST00000639385.1:n.117T>C
ENST00000639602.1:c.612T>C	ENSP00000492303.1:p.Asn204=
ENST00000639754.1:n.944T>C
ENST00000639952.1:c.741T>C	ENSP00000492697.1:p.Asn247=
ENST00000640044.1:c.310+84422T>C	ENSP00000491434.1:n.310+84422T>C
ENST00000640243.1:c.741T>C	ENSP00000492803.1:p.Asn247=
ENST00000640522.1:c.741T>C	ENSP00000491019.1:p.Asn247=
ENST00000640528.1:c.741T>C	ENSP00000491725.1:p.Asn247=
ENST00000640566.1:c.310+84422T>C	ENSP00000491302.1:n.310+84422T>C
ENST00000640710.1:c.741T>C	ENSP00000492513.1:p.Asn247=
ENST00000640890.1:n.843T>C
ENST00000271751.8:c.741T>C	ENSP00000271751.4:p.Asn247=
ENST00000367007.4:c.741T>C	ENSP00000355974.4:p.Asn247=
NM_002238.3:c.741T>C	NP_002229.1:p.Asn247=
NM_172362.2:c.741T>C	NP_758872.1:p.Asn247=
NM_172362.3:c.741T>C MANE Select	NP_758872.1:p.Asn247=
NM_002238.4:c.741T>C	NP_002229.1:p.Asn247=