Canonical Allele Identifier: CA369852704

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947397-G-T
• MyVariant Identifiers: chr7:g.150644485G>T (hg19) ; chr7:g.150947397G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947397G>T , CM000669.2:g.150947397G>T	GRCh38
NC_000007.13:g.150644485G>T , CM000669.1:g.150644485G>T	GRCh37
NC_000007.12:g.150275418G>T	NCBI36
NG_008916.1:g.35530C>A , LRG_288:g.35530C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3916C>A
ENST00000262186.10:c.3083C>A MANE Select	ENSP00000262186.5:p.Ser1028Tyr
ENST00000330883.9:c.2063C>A	ENSP00000328531.4:p.Ser688Tyr
ENST00000262186.9:c.3083C>A	ENSP00000262186.5:p.Ser1028Tyr
ENST00000330883.8:c.2063C>A	ENSP00000328531.4:p.Ser688Tyr
NM_000238.3:c.3083C>A , LRG_288t1:c.3083C>A	NP_000229.1:p.Ser1028Tyr
NM_172057.2:c.2063C>A , LRG_288t3:c.2063C>A	NP_742054.1:p.Ser688Tyr
XM_011516185.1:c.2783C>A	XP_011514487.1:p.Ser928Tyr
XM_011516185.2:c.2783C>A	XP_011514487.1:p.Ser928Tyr
XM_017012195.1:c.2933C>A	XP_016867684.1:p.Ser978Tyr
XM_017012196.1:c.2906C>A	XP_016867685.1:p.Ser969Tyr
NM_000238.4:c.3083C>A MANE Select	NP_000229.1:p.Ser1028Tyr
NM_172057.3:c.2063C>A	NP_742054.1:p.Ser688Tyr