Canonical Allele Identifier: CA369853607

Gene: KCNH2

Linked Data

• dbSNP Id: rs758917587
• gnomAD v2: 7-150645533-C-A
• gnomAD v3: 7-150948445-C-A
• gnomAD v4: 7-150948445-C-A
• MyVariant Identifiers: chr7:g.150645533C>A (hg19) ; chr7:g.150645533_150645537delinsATTGT (hg19) ; chr7:g.150948445C>A (hg38) ; chr7:g.150948445_150948449delinsATTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948445C>A , CM000669.2:g.150948445C>A	GRCh38
NC_000007.13:g.150645533C>A , CM000669.1:g.150645533C>A	GRCh37
NC_000007.12:g.150276466C>A	NCBI36
NG_008916.1:g.34482G>T , LRG_288:g.34482G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3524G>T
ENST00000262186.10:c.2691G>T MANE Select	ENSP00000262186.5:p.Lys897Asn
ENST00000330883.9:c.1671G>T	ENSP00000328531.4:p.Lys557Asn
ENST00000262186.9:c.2691G>T	ENSP00000262186.5:p.Lys897Asn
ENST00000330883.8:c.1671G>T	ENSP00000328531.4:p.Lys557Asn
NM_000238.3:c.2691G>T , LRG_288t1:c.2691G>T	NP_000229.1:p.Lys897Asn
NM_172057.2:c.1671G>T , LRG_288t3:c.1671G>T	NP_742054.1:p.Lys557Asn
XM_011516185.1:c.2391G>T	XP_011514487.1:p.Lys797Asn
XM_011516186.1:c.2691G>T	XP_011514488.1:p.Lys897Asn
XM_011516185.2:c.2391G>T	XP_011514487.1:p.Lys797Asn
XM_011516186.3:c.2691G>T	XP_011514488.1:p.Lys897Asn
XM_017012195.1:c.2541G>T	XP_016867684.1:p.Lys847Asn
XM_017012196.1:c.2514G>T	XP_016867685.1:p.Lys838Asn
NM_000238.4:c.2691G>T MANE Select	NP_000229.1:p.Lys897Asn
NM_172057.3:c.1671G>T	NP_742054.1:p.Lys557Asn