Canonical Allele Identifier: CA369851985

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644000G>C (hg19) ; chr7:g.150946912G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946912G>C , CM000669.2:g.150946912G>C	GRCh38
NC_000007.13:g.150644000G>C , CM000669.1:g.150644000G>C	GRCh37
NC_000007.12:g.150274933G>C	NCBI36
NG_008916.1:g.36015C>G , LRG_288:g.36015C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4128C>G
ENST00000262186.10:c.3295C>G MANE Select	ENSP00000262186.5:p.Pro1099Ala
ENST00000330883.9:c.2275C>G	ENSP00000328531.4:p.Pro759Ala
ENST00000262186.9:c.3295C>G	ENSP00000262186.5:p.Pro1099Ala
ENST00000330883.8:c.2275C>G	ENSP00000328531.4:p.Pro759Ala
NM_000238.3:c.3295C>G , LRG_288t1:c.3295C>G	NP_000229.1:p.Pro1099Ala
NM_172057.2:c.2275C>G , LRG_288t3:c.2275C>G	NP_742054.1:p.Pro759Ala
XM_011516185.1:c.2995C>G	XP_011514487.1:p.Pro999Ala
XM_011516185.2:c.2995C>G	XP_011514487.1:p.Pro999Ala
XM_017012195.1:c.3145C>G	XP_016867684.1:p.Pro1049Ala
XM_017012196.1:c.3118C>G	XP_016867685.1:p.Pro1040Ala
NM_000238.4:c.3295C>G MANE Select	NP_000229.1:p.Pro1099Ala
NM_172057.3:c.2275C>G	NP_742054.1:p.Pro759Ala