Canonical Allele Identifier: CA369851418

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150945406-A-G
• MyVariant Identifiers: chr7:g.150642494A>G (hg19) ; chr7:g.150945406A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945406A>G , CM000669.2:g.150945406A>G	GRCh38
NC_000007.13:g.150642494A>G , CM000669.1:g.150642494A>G	GRCh37
NC_000007.12:g.150273427A>G	NCBI36
NG_008916.1:g.37521T>C , LRG_288:g.37521T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4272T>C
ENST00000262186.10:c.3439T>C MANE Select	ENSP00000262186.5:p.Ser1147Pro
ENST00000330883.9:c.2419T>C	ENSP00000328531.4:p.Ser807Pro
ENST00000262186.9:c.3439T>C	ENSP00000262186.5:p.Ser1147Pro
ENST00000330883.8:c.2419T>C	ENSP00000328531.4:p.Ser807Pro
NM_000238.3:c.3439T>C , LRG_288t1:c.3439T>C	NP_000229.1:p.Ser1147Pro
NM_172057.2:c.2419T>C , LRG_288t3:c.2419T>C	NP_742054.1:p.Ser807Pro
XM_011516185.1:c.3139T>C	XP_011514487.1:p.Ser1047Pro
XM_011516185.2:c.3139T>C	XP_011514487.1:p.Ser1047Pro
XM_017012195.1:c.3289T>C	XP_016867684.1:p.Ser1097Pro
XM_017012196.1:c.3262T>C	XP_016867685.1:p.Ser1088Pro
NM_000238.4:c.3439T>C MANE Select	NP_000229.1:p.Ser1147Pro
NM_172057.3:c.2419T>C	NP_742054.1:p.Ser807Pro