Canonical Allele Identifier: CA458870990

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947715-G-T
• MyVariant Identifiers: chr7:g.150644803G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947715G>T , CM000669.2:g.150947715G>T	GRCh38
NC_000007.13:g.150644803G>T , CM000669.1:g.150644803G>T	GRCh37
NC_000007.12:g.150275736G>T	NCBI36
NG_008916.1:g.35212C>A , LRG_288:g.35212C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3689C>A
ENST00000262186.10:c.2856C>A MANE Select	ENSP00000262186.5:p.Pro952=
ENST00000330883.9:c.1836C>A	ENSP00000328531.4:p.Pro612=
ENST00000262186.9:c.2856C>A	ENSP00000262186.5:p.Pro952=
ENST00000330883.8:c.1836C>A	ENSP00000328531.4:p.Pro612=
NM_000238.3:c.2856C>A , LRG_288t1:c.2856C>A	NP_000229.1:p.Pro952=
NM_172057.2:c.1836C>A , LRG_288t3:c.1836C>A	NP_742054.1:p.Pro612=
XM_011516185.1:c.2556C>A	XP_011514487.1:p.Pro852=
XM_011516186.1:c.2693-24C>A	XP_011514488.1:n.2693-24C>A
XM_011516185.2:c.2556C>A	XP_011514487.1:p.Pro852=
XM_011516186.3:c.2693-24C>A	XP_011514488.1:n.2693-24C>A
XM_017012195.1:c.2706C>A	XP_016867684.1:p.Pro902=
XM_017012196.1:c.2679C>A	XP_016867685.1:p.Pro893=
NM_000238.4:c.2856C>A MANE Select	NP_000229.1:p.Pro952=
NM_172057.3:c.1836C>A	NP_742054.1:p.Pro612=