Canonical Allele Identifier: CA369862280

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958128-A-G
• MyVariant Identifiers: chr7:g.150655216A>G (hg19) ; chr7:g.150958128A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958128A>G , CM000669.2:g.150958128A>G	GRCh38
NC_000007.13:g.150655216A>G , CM000669.1:g.150655216A>G	GRCh37
NC_000007.12:g.150286149A>G	NCBI36
NG_008916.1:g.24799T>C , LRG_288:g.24799T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1680T>C
ENST00000262186.10:c.847T>C MANE Select	ENSP00000262186.5:p.Ser283Pro
ENST00000262186.9:c.847T>C	ENSP00000262186.5:p.Ser283Pro
ENST00000430723.4:c.499T>C	ENSP00000387657.4:p.Ser167Pro
ENST00000532957.5:n.1070T>C
NM_000238.3:c.847T>C , LRG_288t1:c.847T>C	NP_000229.1:p.Ser283Pro
NM_172056.2:c.847T>C , LRG_288t2:c.847T>C	NP_742053.1:p.Ser283Pro
XM_011516185.1:c.547T>C	XP_011514487.1:p.Ser183Pro
XM_011516186.1:c.847T>C	XP_011514488.1:p.Ser283Pro
XM_011516185.2:c.547T>C	XP_011514487.1:p.Ser183Pro
XM_011516186.3:c.847T>C	XP_011514488.1:p.Ser283Pro
XM_017012195.1:c.697T>C	XP_016867684.1:p.Ser233Pro
XM_017012196.1:c.670T>C	XP_016867685.1:p.Ser224Pro
NM_000238.4:c.847T>C MANE Select	NP_000229.1:p.Ser283Pro