Canonical Allele Identifier: CA369852910

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947460-C-G
• MyVariant Identifiers: chr7:g.150644548C>G (hg19) ; chr7:g.150947460C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947460C>G , CM000669.2:g.150947460C>G	GRCh38
NC_000007.13:g.150644548C>G , CM000669.1:g.150644548C>G	GRCh37
NC_000007.12:g.150275481C>G	NCBI36
NG_008916.1:g.35467G>C , LRG_288:g.35467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3853G>C
ENST00000262186.10:c.3020G>C MANE Select	ENSP00000262186.5:p.Arg1007Pro
ENST00000330883.9:c.2000G>C	ENSP00000328531.4:p.Arg667Pro
ENST00000262186.9:c.3020G>C	ENSP00000262186.5:p.Arg1007Pro
ENST00000330883.8:c.2000G>C	ENSP00000328531.4:p.Arg667Pro
NM_000238.3:c.3020G>C , LRG_288t1:c.3020G>C	NP_000229.1:p.Arg1007Pro
NM_172057.2:c.2000G>C , LRG_288t3:c.2000G>C	NP_742054.1:p.Arg667Pro
XM_011516185.1:c.2720G>C	XP_011514487.1:p.Arg907Pro
XM_011516186.1:c.*100G>C	XP_011514488.1:n.*100G>C
XM_011516185.2:c.2720G>C	XP_011514487.1:p.Arg907Pro
XM_011516186.3:c.*100G>C	XP_011514488.1:n.*100G>C
XM_017012195.1:c.2870G>C	XP_016867684.1:p.Arg957Pro
XM_017012196.1:c.2843G>C	XP_016867685.1:p.Arg948Pro
NM_000238.4:c.3020G>C MANE Select	NP_000229.1:p.Arg1007Pro
NM_172057.3:c.2000G>C	NP_742054.1:p.Arg667Pro