Canonical Allele Identifier: CA369854777

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150645975G>A (hg19) ; chr7:g.150948887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948887G>A , CM000669.2:g.150948887G>A	GRCh38
NC_000007.13:g.150645975G>A , CM000669.1:g.150645975G>A	GRCh37
NC_000007.12:g.150276908G>A	NCBI36
NG_008916.1:g.34040C>T , LRG_288:g.34040C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3394C>T
ENST00000262186.10:c.2561C>T MANE Select	ENSP00000262186.5:p.Ser854Phe
ENST00000330883.9:c.1541C>T	ENSP00000328531.4:p.Ser514Phe
ENST00000262186.9:c.2561C>T	ENSP00000262186.5:p.Ser854Phe
ENST00000330883.8:c.1541C>T	ENSP00000328531.4:p.Ser514Phe
NM_000238.3:c.2561C>T , LRG_288t1:c.2561C>T	NP_000229.1:p.Ser854Phe
NM_172057.2:c.1541C>T , LRG_288t3:c.1541C>T	NP_742054.1:p.Ser514Phe
XM_011516185.1:c.2261C>T	XP_011514487.1:p.Ser754Phe
XM_011516186.1:c.2561C>T	XP_011514488.1:p.Ser854Phe
XM_011516185.2:c.2261C>T	XP_011514487.1:p.Ser754Phe
XM_011516186.3:c.2561C>T	XP_011514488.1:p.Ser854Phe
XM_017012195.1:c.2411C>T	XP_016867684.1:p.Ser804Phe
XM_017012196.1:c.2384C>T	XP_016867685.1:p.Ser795Phe
NM_000238.4:c.2561C>T MANE Select	NP_000229.1:p.Ser854Phe
NM_172057.3:c.1541C>T	NP_742054.1:p.Ser514Phe