Canonical Allele Identifier: CA369853472

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644912C>G (hg19) ; chr7:g.150947824C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947824C>G , CM000669.2:g.150947824C>G	GRCh38
NC_000007.13:g.150644912C>G , CM000669.1:g.150644912C>G	GRCh37
NC_000007.12:g.150275845C>G	NCBI36
NG_008916.1:g.35103G>C , LRG_288:g.35103G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3580G>C
ENST00000262186.10:c.2747G>C MANE Select	ENSP00000262186.5:p.Gly916Ala
ENST00000330883.9:c.1727G>C	ENSP00000328531.4:p.Gly576Ala
ENST00000262186.9:c.2747G>C	ENSP00000262186.5:p.Gly916Ala
ENST00000330883.8:c.1727G>C	ENSP00000328531.4:p.Gly576Ala
NM_000238.3:c.2747G>C , LRG_288t1:c.2747G>C	NP_000229.1:p.Gly916Ala
NM_172057.2:c.1727G>C , LRG_288t3:c.1727G>C	NP_742054.1:p.Gly576Ala
XM_011516185.1:c.2447G>C	XP_011514487.1:p.Gly816Ala
XM_011516186.1:c.2693-133G>C	XP_011514488.1:n.2693-133G>C
XM_011516185.2:c.2447G>C	XP_011514487.1:p.Gly816Ala
XM_011516186.3:c.2693-133G>C	XP_011514488.1:n.2693-133G>C
XM_017012195.1:c.2597G>C	XP_016867684.1:p.Gly866Ala
XM_017012196.1:c.2570G>C	XP_016867685.1:p.Gly857Ala
NM_000238.4:c.2747G>C MANE Select	NP_000229.1:p.Gly916Ala
NM_172057.3:c.1727G>C	NP_742054.1:p.Gly576Ala