Canonical Allele Identifier: CA369851611

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150642592A>G (hg19) ; chr7:g.150945504A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945504A>G , CM000669.2:g.150945504A>G	GRCh38
NC_000007.13:g.150642592A>G , CM000669.1:g.150642592A>G	GRCh37
NC_000007.12:g.150273525A>G	NCBI36
NG_008916.1:g.37423T>C , LRG_288:g.37423T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4174T>C
ENST00000262186.10:c.3341T>C MANE Select	ENSP00000262186.5:p.Phe1114Ser
ENST00000330883.9:c.2321T>C	ENSP00000328531.4:p.Phe774Ser
ENST00000262186.9:c.3341T>C	ENSP00000262186.5:p.Phe1114Ser
ENST00000330883.8:c.2321T>C	ENSP00000328531.4:p.Phe774Ser
NM_000238.3:c.3341T>C , LRG_288t1:c.3341T>C	NP_000229.1:p.Phe1114Ser
NM_172057.2:c.2321T>C , LRG_288t3:c.2321T>C	NP_742054.1:p.Phe774Ser
XM_011516185.1:c.3041T>C	XP_011514487.1:p.Phe1014Ser
XM_011516185.2:c.3041T>C	XP_011514487.1:p.Phe1014Ser
XM_017012195.1:c.3191T>C	XP_016867684.1:p.Phe1064Ser
XM_017012196.1:c.3164T>C	XP_016867685.1:p.Phe1055Ser
NM_000238.4:c.3341T>C MANE Select	NP_000229.1:p.Phe1114Ser
NM_172057.3:c.2321T>C	NP_742054.1:p.Phe774Ser