Canonical Allele Identifier: CA458644602

Gene: KCNH2

Linked Data

• gnomAD v3: 7-150945503-G-A
• gnomAD v4: 7-150945503-G-A
• MyVariant Identifiers: chr7:g.150642591G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945503G>A , CM000669.2:g.150945503G>A	GRCh38
NC_000007.13:g.150642591G>A , CM000669.1:g.150642591G>A	GRCh37
NC_000007.12:g.150273524G>A	NCBI36
NG_008916.1:g.37424C>T , LRG_288:g.37424C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4175C>T
ENST00000262186.10:c.3342C>T MANE Select	ENSP00000262186.5:p.Phe1114=
ENST00000330883.9:c.2322C>T	ENSP00000328531.4:p.Phe774=
ENST00000262186.9:c.3342C>T	ENSP00000262186.5:p.Phe1114=
ENST00000330883.8:c.2322C>T	ENSP00000328531.4:p.Phe774=
NM_000238.3:c.3342C>T , LRG_288t1:c.3342C>T	NP_000229.1:p.Phe1114=
NM_172057.2:c.2322C>T , LRG_288t3:c.2322C>T	NP_742054.1:p.Phe774=
XM_011516185.1:c.3042C>T	XP_011514487.1:p.Phe1014=
XM_011516185.2:c.3042C>T	XP_011514487.1:p.Phe1014=
XM_017012195.1:c.3192C>T	XP_016867684.1:p.Phe1064=
XM_017012196.1:c.3165C>T	XP_016867685.1:p.Phe1055=
NM_000238.4:c.3342C>T MANE Select	NP_000229.1:p.Phe1114=
NM_172057.3:c.2322C>T	NP_742054.1:p.Phe774=