Canonical Allele Identifier: CA369862485

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801444070
• gnomAD v4: 7-150958187-G-A
• MyVariant Identifiers: chr7:g.150655275G>A (hg19) ; chr7:g.150958187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958187G>A , CM000669.2:g.150958187G>A	GRCh38
NC_000007.13:g.150655275G>A , CM000669.1:g.150655275G>A	GRCh37
NC_000007.12:g.150286208G>A	NCBI36
NG_008916.1:g.24740C>T , LRG_288:g.24740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1621C>T
ENST00000262186.10:c.788C>T MANE Select	ENSP00000262186.5:p.Ser263Phe
ENST00000262186.9:c.788C>T	ENSP00000262186.5:p.Ser263Phe
ENST00000430723.4:c.440C>T	ENSP00000387657.4:p.Ser147Phe
ENST00000532957.5:n.1011C>T
NM_000238.3:c.788C>T , LRG_288t1:c.788C>T	NP_000229.1:p.Ser263Phe
NM_172056.2:c.788C>T , LRG_288t2:c.788C>T	NP_742053.1:p.Ser263Phe
XM_011516185.1:c.488C>T	XP_011514487.1:p.Ser163Phe
XM_011516186.1:c.788C>T	XP_011514488.1:p.Ser263Phe
XM_011516185.2:c.488C>T	XP_011514487.1:p.Ser163Phe
XM_011516186.3:c.788C>T	XP_011514488.1:p.Ser263Phe
XM_017012195.1:c.638C>T	XP_016867684.1:p.Ser213Phe
XM_017012196.1:c.611C>T	XP_016867685.1:p.Ser204Phe
NM_000238.4:c.788C>T MANE Select	NP_000229.1:p.Ser263Phe