Canonical Allele Identifier: CA349221128

Gene: KCNH7

Linked Data

• MyVariant Identifiers: chr2:g.163291926G>A (hg19) ; chr2:g.162435416G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435416G>A , CM000664.2:g.162435416G>A	GRCh38
NC_000002.11:g.163291926G>A , CM000664.1:g.163291926G>A	GRCh37
NC_000002.10:g.163000172G>A	NCBI36
NG_041938.1:g.408332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1736C>T MANE Select	ENSP00000331727.5:p.Pro579Leu
ENST00000328032.8:c.1715C>T	ENSP00000333781.4:p.Pro572Leu
ENST00000332142.9:c.1736C>T	ENSP00000331727.5:p.Pro579Leu
ENST00000618399.4:c.1436C>T	ENSP00000482818.1:p.Pro479Leu
ENST00000621889.1:c.1409C>T	ENSP00000483158.1:p.Pro470Leu
NM_033272.3:c.1736C>T	NP_150375.2:p.Pro579Leu
NM_173162.2:c.1715C>T	NP_775185.1:p.Pro572Leu
XM_011512109.1:c.1760C>T	XP_011510411.1:p.Pro587Leu
XM_011512109.3:c.1760C>T	XP_011510411.1:p.Pro587Leu
XM_017005218.2:c.1760C>T	XP_016860707.1:p.Pro587Leu
XM_017005219.2:c.1736C>T	XP_016860708.1:p.Pro579Leu
XM_017005220.2:c.1715C>T	XP_016860709.1:p.Pro572Leu
XM_017005221.2:c.1760C>T	XP_016860710.1:p.Pro587Leu
NM_033272.4:c.1736C>T MANE Select	NP_150375.2:p.Pro579Leu
NM_173162.3:c.1715C>T	NP_775185.1:p.Pro572Leu