Canonical Allele Identifier: CA369852569

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947357-C-A
• MyVariant Identifiers: chr7:g.150644445C>A (hg19) ; chr7:g.150947357C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947357C>A , CM000669.2:g.150947357C>A	GRCh38
NC_000007.13:g.150644445C>A , CM000669.1:g.150644445C>A	GRCh37
NC_000007.12:g.150275378C>A	NCBI36
NG_008916.1:g.35570G>T , LRG_288:g.35570G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3956G>T
ENST00000262186.10:c.3123G>T MANE Select	ENSP00000262186.5:p.Arg1041Ser
ENST00000330883.9:c.2103G>T	ENSP00000328531.4:p.Arg701Ser
ENST00000262186.9:c.3123G>T	ENSP00000262186.5:p.Arg1041Ser
ENST00000330883.8:c.2103G>T	ENSP00000328531.4:p.Arg701Ser
NM_000238.3:c.3123G>T , LRG_288t1:c.3123G>T	NP_000229.1:p.Arg1041Ser
NM_172057.2:c.2103G>T , LRG_288t3:c.2103G>T	NP_742054.1:p.Arg701Ser
XM_011516185.1:c.2823G>T	XP_011514487.1:p.Arg941Ser
XM_011516185.2:c.2823G>T	XP_011514487.1:p.Arg941Ser
XM_017012195.1:c.2973G>T	XP_016867684.1:p.Arg991Ser
XM_017012196.1:c.2946G>T	XP_016867685.1:p.Arg982Ser
NM_000238.4:c.3123G>T MANE Select	NP_000229.1:p.Arg1041Ser
NM_172057.3:c.2103G>T	NP_742054.1:p.Arg701Ser