Canonical Allele Identifier: CA037314

Gene: KCNH2

Linked Data

• dbSNP Id: rs535114110
• ExAC: 7:150644388 C / G
• gnomAD v2: 7-150644388-C-G
• gnomAD v3: 7-150947300-C-G
• gnomAD v4: 7-150947300-C-G
• MyVariant Identifiers: chr7:g.150644388C>G (hg19) ; chr7:g.150947300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947300C>G , CM000669.2:g.150947300C>G	GRCh38
NC_000007.13:g.150644388C>G , CM000669.1:g.150644388C>G	GRCh37
NC_000007.12:g.150275321C>G	NCBI36
NG_008916.1:g.35627G>C , LRG_288:g.35627G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3985+28G>C
ENST00000262186.10:c.3152+28G>C MANE Select	ENSP00000262186.5:n.3152+28G>C
ENST00000330883.9:c.2132+28G>C	ENSP00000328531.4:n.2132+28G>C
ENST00000262186.9:c.3152+28G>C	ENSP00000262186.5:n.3152+28G>C
ENST00000330883.8:c.2132+28G>C	ENSP00000328531.4:n.2132+28G>C
NM_000238.3:c.3152+28G>C , LRG_288t1:c.3152+28G>C	NP_000229.1:n.3152+28G>C
NM_172057.2:c.2132+28G>C , LRG_288t3:c.2132+28G>C	NP_742054.1:n.2132+28G>C
XM_011516185.1:c.2852+28G>C	XP_011514487.1:n.2852+28G>C
XM_011516185.2:c.2852+28G>C	XP_011514487.1:n.2852+28G>C
XM_017012195.1:c.3002+28G>C	XP_016867684.1:n.3002+28G>C
XM_017012196.1:c.2975+28G>C	XP_016867685.1:n.2975+28G>C
NM_000238.4:c.3152+28G>C MANE Select	NP_000229.1:n.3152+28G>C
NM_172057.3:c.2132+28G>C	NP_742054.1:n.2132+28G>C