Canonical Allele Identifier: CA369862390

Gene: KCNH2

Linked Data

• dbSNP Id: rs13229961
• gnomAD v4: 7-150958161-A-G
• MyVariant Identifiers: chr7:g.150655249A>G (hg19) ; chr7:g.150958161A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958161A>G , CM000669.2:g.150958161A>G	GRCh38
NC_000007.13:g.150655249A>G , CM000669.1:g.150655249A>G	GRCh37
NC_000007.12:g.150286182A>G	NCBI36
NG_008916.1:g.24766T>C , LRG_288:g.24766T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1647T>C
ENST00000262186.10:c.814T>C MANE Select	ENSP00000262186.5:p.Ser272Pro
ENST00000262186.9:c.814T>C	ENSP00000262186.5:p.Ser272Pro
ENST00000430723.4:c.466T>C	ENSP00000387657.4:p.Ser156Pro
ENST00000532957.5:n.1037T>C
NM_000238.3:c.814T>C , LRG_288t1:c.814T>C	NP_000229.1:p.Ser272Pro
NM_172056.2:c.814T>C , LRG_288t2:c.814T>C	NP_742053.1:p.Ser272Pro
XM_011516185.1:c.514T>C	XP_011514487.1:p.Ser172Pro
XM_011516186.1:c.814T>C	XP_011514488.1:p.Ser272Pro
XM_011516185.2:c.514T>C	XP_011514487.1:p.Ser172Pro
XM_011516186.3:c.814T>C	XP_011514488.1:p.Ser272Pro
XM_017012195.1:c.664T>C	XP_016867684.1:p.Ser222Pro
XM_017012196.1:c.637T>C	XP_016867685.1:p.Ser213Pro
NM_000238.4:c.814T>C MANE Select	NP_000229.1:p.Ser272Pro