Canonical Allele Identifier: CA033126

Gene: KCNH2

Linked Data

• dbSNP Id: rs774390249
• ExAC: 7:150645915 T / G
• gnomAD v2: 7-150645915-T-G
• gnomAD v3: 7-150948827-T-G
• gnomAD v4: 7-150948827-T-G
• MyVariant Identifiers: chr7:g.150645915T>G (hg19) ; chr7:g.150948827T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948827T>G , CM000669.2:g.150948827T>G	GRCh38
NC_000007.13:g.150645915T>G , CM000669.1:g.150645915T>G	GRCh37
NC_000007.12:g.150276848T>G	NCBI36
NG_008916.1:g.34100A>C , LRG_288:g.34100A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3425+29A>C
ENST00000262186.10:c.2592+29A>C MANE Select	ENSP00000262186.5:n.2592+29A>C
ENST00000330883.9:c.1572+29A>C	ENSP00000328531.4:n.1572+29A>C
ENST00000262186.9:c.2592+29A>C	ENSP00000262186.5:n.2592+29A>C
ENST00000330883.8:c.1572+29A>C	ENSP00000328531.4:n.1572+29A>C
NM_000238.3:c.2592+29A>C , LRG_288t1:c.2592+29A>C	NP_000229.1:n.2592+29A>C
NM_172057.2:c.1572+29A>C , LRG_288t3:c.1572+29A>C	NP_742054.1:n.1572+29A>C
XM_011516185.1:c.2292+29A>C	XP_011514487.1:n.2292+29A>C
XM_011516186.1:c.2592+29A>C	XP_011514488.1:n.2592+29A>C
XM_011516185.2:c.2292+29A>C	XP_011514487.1:n.2292+29A>C
XM_011516186.3:c.2592+29A>C	XP_011514488.1:n.2592+29A>C
XM_017012195.1:c.2442+29A>C	XP_016867684.1:n.2442+29A>C
XM_017012196.1:c.2415+29A>C	XP_016867685.1:n.2415+29A>C
NM_000238.4:c.2592+29A>C MANE Select	NP_000229.1:n.2592+29A>C
NM_172057.3:c.1572+29A>C	NP_742054.1:n.1572+29A>C