Canonical Allele Identifier: CA458644954

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947495-G-T
• MyVariant Identifiers: chr7:g.150644583G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947495G>T , CM000669.2:g.150947495G>T	GRCh38
NC_000007.13:g.150644583G>T , CM000669.1:g.150644583G>T	GRCh37
NC_000007.12:g.150275516G>T	NCBI36
NG_008916.1:g.35432C>A , LRG_288:g.35432C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3818C>A
ENST00000262186.10:c.2985C>A MANE Select	ENSP00000262186.5:p.Ser995=
ENST00000330883.9:c.1965C>A	ENSP00000328531.4:p.Ser655=
ENST00000262186.9:c.2985C>A	ENSP00000262186.5:p.Ser995=
ENST00000330883.8:c.1965C>A	ENSP00000328531.4:p.Ser655=
NM_000238.3:c.2985C>A , LRG_288t1:c.2985C>A	NP_000229.1:p.Ser995=
NM_172057.2:c.1965C>A , LRG_288t3:c.1965C>A	NP_742054.1:p.Ser655=
XM_011516185.1:c.2685C>A	XP_011514487.1:p.Ser895=
XM_011516186.1:c.*65C>A	XP_011514488.1:n.*65C>A
XM_011516185.2:c.2685C>A	XP_011514487.1:p.Ser895=
XM_011516186.3:c.*65C>A	XP_011514488.1:n.*65C>A
XM_017012195.1:c.2835C>A	XP_016867684.1:p.Ser945=
XM_017012196.1:c.2808C>A	XP_016867685.1:p.Ser936=
NM_000238.4:c.2985C>A MANE Select	NP_000229.1:p.Ser995=
NM_172057.3:c.1965C>A	NP_742054.1:p.Ser655=