Canonical Allele Identifier: CA458871893

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958144-G-C
• MyVariant Identifiers: chr7:g.150655232G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958144G>C , CM000669.2:g.150958144G>C	GRCh38
NC_000007.13:g.150655232G>C , CM000669.1:g.150655232G>C	GRCh37
NC_000007.12:g.150286165G>C	NCBI36
NG_008916.1:g.24783C>G , LRG_288:g.24783C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1664C>G
ENST00000262186.10:c.831C>G MANE Select	ENSP00000262186.5:p.Ala277=
ENST00000262186.9:c.831C>G	ENSP00000262186.5:p.Ala277=
ENST00000430723.4:c.483C>G	ENSP00000387657.4:p.Ala161=
ENST00000532957.5:n.1054C>G
NM_000238.3:c.831C>G , LRG_288t1:c.831C>G	NP_000229.1:p.Ala277=
NM_172056.2:c.831C>G , LRG_288t2:c.831C>G	NP_742053.1:p.Ala277=
XM_011516185.1:c.531C>G	XP_011514487.1:p.Ala177=
XM_011516186.1:c.831C>G	XP_011514488.1:p.Ala277=
XM_011516185.2:c.531C>G	XP_011514487.1:p.Ala177=
XM_011516186.3:c.831C>G	XP_011514488.1:p.Ala277=
XM_017012195.1:c.681C>G	XP_016867684.1:p.Ala227=
XM_017012196.1:c.654C>G	XP_016867685.1:p.Ala218=
NM_000238.4:c.831C>G MANE Select	NP_000229.1:p.Ala277=