Canonical Allele Identifier: CA033489

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 456913
• ClinVar RCV Id: RCV000587758 ; RCV001841437 ; RCV001085329 ; RCV004023763 ; RCV004553180
• dbSNP Id: rs374296728
• ExAC: 7:150645608 G / A
• gnomAD v2: 7-150645608-G-A
• gnomAD v3: 7-150948520-G-A
• gnomAD v4: 7-150948520-G-A
• MyVariant Identifiers: chr7:g.150645608G>A (hg19) ; chr7:g.150948520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948520G>A , CM000669.2:g.150948520G>A	GRCh38
NC_000007.13:g.150645608G>A , CM000669.1:g.150645608G>A	GRCh37
NC_000007.12:g.150276541G>A	NCBI36
NG_008916.1:g.34407C>T , LRG_288:g.34407C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3449C>T
ENST00000262186.10:c.2616C>T MANE Select	ENSP00000262186.5:p.Pro872=
ENST00000330883.9:c.1596C>T	ENSP00000328531.4:p.Pro532=
ENST00000262186.9:c.2616C>T	ENSP00000262186.5:p.Pro872=
ENST00000330883.8:c.1596C>T	ENSP00000328531.4:p.Pro532=
NM_000238.3:c.2616C>T , LRG_288t1:c.2616C>T	NP_000229.1:p.Pro872=
NM_172057.2:c.1596C>T , LRG_288t3:c.1596C>T	NP_742054.1:p.Pro532=
XM_011516185.1:c.2316C>T	XP_011514487.1:p.Pro772=
XM_011516186.1:c.2616C>T	XP_011514488.1:p.Pro872=
XM_011516185.2:c.2316C>T	XP_011514487.1:p.Pro772=
XM_011516186.3:c.2616C>T	XP_011514488.1:p.Pro872=
XM_017012195.1:c.2466C>T	XP_016867684.1:p.Pro822=
XM_017012196.1:c.2439C>T	XP_016867685.1:p.Pro813=
NM_000238.4:c.2616C>T MANE Select	NP_000229.1:p.Pro872=
NM_172057.3:c.1596C>T	NP_742054.1:p.Pro532=