Canonical Allele Identifier: CA369853274

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947723-A-G
• MyVariant Identifiers: chr7:g.150644811A>G (hg19) ; chr7:g.150947723A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947723A>G , CM000669.2:g.150947723A>G	GRCh38
NC_000007.13:g.150644811A>G , CM000669.1:g.150644811A>G	GRCh37
NC_000007.12:g.150275744A>G	NCBI36
NG_008916.1:g.35204T>C , LRG_288:g.35204T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3681T>C
ENST00000262186.10:c.2848T>C MANE Select	ENSP00000262186.5:p.Ser950Pro
ENST00000330883.9:c.1828T>C	ENSP00000328531.4:p.Ser610Pro
ENST00000262186.9:c.2848T>C	ENSP00000262186.5:p.Ser950Pro
ENST00000330883.8:c.1828T>C	ENSP00000328531.4:p.Ser610Pro
NM_000238.3:c.2848T>C , LRG_288t1:c.2848T>C	NP_000229.1:p.Ser950Pro
NM_172057.2:c.1828T>C , LRG_288t3:c.1828T>C	NP_742054.1:p.Ser610Pro
XM_011516185.1:c.2548T>C	XP_011514487.1:p.Ser850Pro
XM_011516186.1:c.2693-32T>C	XP_011514488.1:n.2693-32T>C
XM_011516185.2:c.2548T>C	XP_011514487.1:p.Ser850Pro
XM_011516186.3:c.2693-32T>C	XP_011514488.1:n.2693-32T>C
XM_017012195.1:c.2698T>C	XP_016867684.1:p.Ser900Pro
XM_017012196.1:c.2671T>C	XP_016867685.1:p.Ser891Pro
NM_000238.4:c.2848T>C MANE Select	NP_000229.1:p.Ser950Pro
NM_172057.3:c.1828T>C	NP_742054.1:p.Ser610Pro