Canonical Allele Identifier: CA344874562

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.210977486G>C (hg19) ; chr1:g.210804144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804144G>C , CM000663.2:g.210804144G>C	GRCh38
NC_000001.10:g.210977486G>C , CM000663.1:g.210977486G>C	GRCh37
NC_000001.9:g.209044109G>C	NCBI36
NG_029777.1:g.334972C>G
NG_029777.2:g.334972C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1485C>G MANE Select	ENSP00000271751.4:p.Phe495Leu
ENST00000367007.5:c.1404C>G	ENSP00000355974.5:p.Phe468Leu
ENST00000638357.1:c.818C>G
ENST00000638498.1:c.1485C>G	ENSP00000490983.1:p.Phe495Leu
ENST00000638960.1:c.1404C>G	ENSP00000492302.1:p.Phe468Leu
ENST00000639952.1:c.1404C>G	ENSP00000492697.1:p.Phe468Leu
ENST00000640044.1:c.333C>G	ENSP00000491434.1:p.Phe111Leu
ENST00000640243.1:c.974C>G	ENSP00000492803.1:p.Ser325Trp
ENST00000640522.1:c.1055C>G	ENSP00000491019.1:p.Ser352Trp
ENST00000640528.1:c.1404C>G	ENSP00000491725.1:p.Phe468Leu
ENST00000640566.1:c.311-28600C>G	ENSP00000491302.1:n.311-28600C>G
ENST00000640710.1:c.1404C>G	ENSP00000492513.1:p.Phe468Leu
ENST00000271751.8:c.1485C>G	ENSP00000271751.4:p.Phe495Leu
ENST00000367007.4:c.1404C>G	ENSP00000355974.4:p.Phe468Leu
NM_002238.3:c.1404C>G	NP_002229.1:p.Phe468Leu
NM_172362.2:c.1485C>G	NP_758872.1:p.Phe495Leu
XM_011509514.1:c.309C>G	XP_011507816.1:p.Phe103Leu
XM_017001246.1:c.309C>G	XP_016856735.1:p.Phe103Leu
NM_172362.3:c.1485C>G MANE Select	NP_758872.1:p.Phe495Leu
NM_002238.4:c.1404C>G	NP_002229.1:p.Phe468Leu