Canonical Allele Identifier: CA369851403

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2567295
• ClinVar RCV Id: RCV003278432
• gnomAD v4: 7-150945400-G-A
• MyVariant Identifiers: chr7:g.150642488G>A (hg19) ; chr7:g.150945400G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945400G>A , CM000669.2:g.150945400G>A	GRCh38
NC_000007.13:g.150642488G>A , CM000669.1:g.150642488G>A	GRCh37
NC_000007.12:g.150273421G>A	NCBI36
NG_008916.1:g.37527C>T , LRG_288:g.37527C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4278C>T
ENST00000262186.10:c.3445C>T MANE Select	ENSP00000262186.5:p.Pro1149Ser
ENST00000330883.9:c.2425C>T	ENSP00000328531.4:p.Pro809Ser
ENST00000262186.9:c.3445C>T	ENSP00000262186.5:p.Pro1149Ser
ENST00000330883.8:c.2425C>T	ENSP00000328531.4:p.Pro809Ser
NM_000238.3:c.3445C>T , LRG_288t1:c.3445C>T	NP_000229.1:p.Pro1149Ser
NM_172057.2:c.2425C>T , LRG_288t3:c.2425C>T	NP_742054.1:p.Pro809Ser
XM_011516185.1:c.3145C>T	XP_011514487.1:p.Pro1049Ser
XM_011516185.2:c.3145C>T	XP_011514487.1:p.Pro1049Ser
XM_017012195.1:c.3295C>T	XP_016867684.1:p.Pro1099Ser
XM_017012196.1:c.3268C>T	XP_016867685.1:p.Pro1090Ser
NM_000238.4:c.3445C>T MANE Select	NP_000229.1:p.Pro1149Ser
NM_172057.3:c.2425C>T	NP_742054.1:p.Pro809Ser