Canonical Allele Identifier: CA458644953

Gene: KCNH2

Linked Data

• dbSNP Id: rs1390931074
• gnomAD v2: 7-150644583-G-C
• MyVariant Identifiers: chr7:g.150644583G>C (hg19) ; chr7:g.150947495G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947495G>C , CM000669.2:g.150947495G>C	GRCh38
NC_000007.13:g.150644583G>C , CM000669.1:g.150644583G>C	GRCh37
NC_000007.12:g.150275516G>C	NCBI36
NG_008916.1:g.35432C>G , LRG_288:g.35432C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3818C>G
ENST00000262186.10:c.2985C>G MANE Select	ENSP00000262186.5:p.Ser995=
ENST00000330883.9:c.1965C>G	ENSP00000328531.4:p.Ser655=
ENST00000262186.9:c.2985C>G	ENSP00000262186.5:p.Ser995=
ENST00000330883.8:c.1965C>G	ENSP00000328531.4:p.Ser655=
NM_000238.3:c.2985C>G , LRG_288t1:c.2985C>G	NP_000229.1:p.Ser995=
NM_172057.2:c.1965C>G , LRG_288t3:c.1965C>G	NP_742054.1:p.Ser655=
XM_011516185.1:c.2685C>G	XP_011514487.1:p.Ser895=
XM_011516186.1:c.*65C>G	XP_011514488.1:n.*65C>G
XM_011516185.2:c.2685C>G	XP_011514487.1:p.Ser895=
XM_011516186.3:c.*65C>G	XP_011514488.1:n.*65C>G
XM_017012195.1:c.2835C>G	XP_016867684.1:p.Ser945=
XM_017012196.1:c.2808C>G	XP_016867685.1:p.Ser936=
NM_000238.4:c.2985C>G MANE Select	NP_000229.1:p.Ser995=
NM_172057.3:c.1965C>G	NP_742054.1:p.Ser655=