Canonical Allele Identifier: CA344874500

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.210977458T>A (hg19) ; chr1:g.210804116T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804116T>A , CM000663.2:g.210804116T>A	GRCh38
NC_000001.10:g.210977458T>A , CM000663.1:g.210977458T>A	GRCh37
NC_000001.9:g.209044081T>A	NCBI36
NG_029777.1:g.335000A>T
NG_029777.2:g.335000A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1513A>T MANE Select	ENSP00000271751.4:p.Met505Leu
ENST00000367007.5:c.1432A>T	ENSP00000355974.5:p.Met478Leu
ENST00000638357.1:c.846A>T
ENST00000638498.1:c.1513A>T	ENSP00000490983.1:p.Met505Leu
ENST00000638960.1:c.1432A>T	ENSP00000492302.1:p.Met478Leu
ENST00000639952.1:c.1432A>T	ENSP00000492697.1:p.Met478Leu
ENST00000640044.1:c.361A>T	ENSP00000491434.1:p.Met121Leu
ENST00000640243.1:c.*18A>T	ENSP00000492803.1:n.*18A>T
ENST00000640522.1:c.*18A>T	ENSP00000491019.1:n.*18A>T
ENST00000640528.1:c.1432A>T	ENSP00000491725.1:p.Met478Leu
ENST00000640566.1:c.311-28572A>T	ENSP00000491302.1:n.311-28572A>T
ENST00000640710.1:c.1432A>T	ENSP00000492513.1:p.Met478Leu
ENST00000271751.8:c.1513A>T	ENSP00000271751.4:p.Met505Leu
ENST00000367007.4:c.1432A>T	ENSP00000355974.4:p.Met478Leu
NM_002238.3:c.1432A>T	NP_002229.1:p.Met478Leu
NM_172362.2:c.1513A>T	NP_758872.1:p.Met505Leu
XM_011509514.1:c.337A>T	XP_011507816.1:p.Met113Leu
XM_017001246.1:c.337A>T	XP_016856735.1:p.Met113Leu
NM_172362.3:c.1513A>T MANE Select	NP_758872.1:p.Met505Leu
NM_002238.4:c.1432A>T	NP_002229.1:p.Met478Leu