Canonical Allele Identifier: CA036902

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 922286
• ClinVar RCV Id: RCV001409557 ; RCV002320406 ; RCV001843119
• dbSNP Id: rs778604642
• ExAC: 7:150644478 C / G
• gnomAD v2: 7-150644478-C-G
• gnomAD v3: 7-150947390-C-G
• gnomAD v4: 7-150947390-C-G
• MyVariant Identifiers: chr7:g.150644478C>G (hg19) ; chr7:g.150947390C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947390C>G , CM000669.2:g.150947390C>G	GRCh38
NC_000007.13:g.150644478C>G , CM000669.1:g.150644478C>G	GRCh37
NC_000007.12:g.150275411C>G	NCBI36
NG_008916.1:g.35537G>C , LRG_288:g.35537G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3923G>C
ENST00000262186.10:c.3090G>C MANE Select	ENSP00000262186.5:p.Pro1030=
ENST00000330883.9:c.2070G>C	ENSP00000328531.4:p.Pro690=
ENST00000262186.9:c.3090G>C	ENSP00000262186.5:p.Pro1030=
ENST00000330883.8:c.2070G>C	ENSP00000328531.4:p.Pro690=
NM_000238.3:c.3090G>C , LRG_288t1:c.3090G>C	NP_000229.1:p.Pro1030=
NM_172057.2:c.2070G>C , LRG_288t3:c.2070G>C	NP_742054.1:p.Pro690=
XM_011516185.1:c.2790G>C	XP_011514487.1:p.Pro930=
XM_011516185.2:c.2790G>C	XP_011514487.1:p.Pro930=
XM_017012195.1:c.2940G>C	XP_016867684.1:p.Pro980=
XM_017012196.1:c.2913G>C	XP_016867685.1:p.Pro971=
NM_000238.4:c.3090G>C MANE Select	NP_000229.1:p.Pro1030=
NM_172057.3:c.2070G>C	NP_742054.1:p.Pro690=