Canonical Allele Identifier: CA835213595

Gene: KCNH2

Linked Data

• dbSNP Id: rs1347604321
• gnomAD v3: 7-150974686-T-TGGCCC
• gnomAD v4: 7-150974686-T-TGGCCC
• MyVariant Identifiers: chr7:g.150671774_150671775insGGCCC (hg19) ; chr7:g.150974686_150974687insGGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974687_150974691dup , CM000669.2:g.150974687_150974691dup	GRCh38
NC_000007.13:g.150671775_150671779dup , CM000669.1:g.150671775_150671779dup	GRCh37
NC_000007.12:g.150302708_150302712dup	NCBI36
NG_008916.1:g.8236_8240dup , LRG_288:g.8236_8240dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+20_307+24dup MANE Select	ENSP00000262186.5:n.307+20_307+24dup
ENST00000262186.9:c.307+20_307+24dup	ENSP00000262186.5:n.307+20_307+24dup
ENST00000430723.4:c.130+20_130+24dup	ENSP00000387657.4:n.130+20_130+24dup
ENST00000532957.5:n.530+20_530+24dup
NM_000238.3:c.307+20_307+24dup , LRG_288t1:c.307+20_307+24dup	NP_000229.1:n.307+20_307+24dup
NM_172056.2:c.307+20_307+24dup , LRG_288t2:c.307+20_307+24dup	NP_742053.1:n.307+20_307+24dup
XM_011516186.1:c.307+20_307+24dup	XP_011514488.1:n.307+20_307+24dup
XM_011516186.3:c.307+20_307+24dup	XP_011514488.1:n.307+20_307+24dup
XM_017012196.1:c.130+20_130+24dup	XP_016867685.1:n.130+20_130+24dup
NM_000238.4:c.307+20_307+24dup MANE Select	NP_000229.1:n.307+20_307+24dup