Canonical Allele Identifier: CA369853879

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150645610G>A (hg19) ; chr7:g.150948522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948522G>A , CM000669.2:g.150948522G>A	GRCh38
NC_000007.13:g.150645610G>A , CM000669.1:g.150645610G>A	GRCh37
NC_000007.12:g.150276543G>A	NCBI36
NG_008916.1:g.34405C>T , LRG_288:g.34405C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3447C>T
ENST00000262186.10:c.2614C>T MANE Select	ENSP00000262186.5:p.Pro872Ser
ENST00000330883.9:c.1594C>T	ENSP00000328531.4:p.Pro532Ser
ENST00000262186.9:c.2614C>T	ENSP00000262186.5:p.Pro872Ser
ENST00000330883.8:c.1594C>T	ENSP00000328531.4:p.Pro532Ser
NM_000238.3:c.2614C>T , LRG_288t1:c.2614C>T	NP_000229.1:p.Pro872Ser
NM_172057.2:c.1594C>T , LRG_288t3:c.1594C>T	NP_742054.1:p.Pro532Ser
XM_011516185.1:c.2314C>T	XP_011514487.1:p.Pro772Ser
XM_011516186.1:c.2614C>T	XP_011514488.1:p.Pro872Ser
XM_011516185.2:c.2314C>T	XP_011514487.1:p.Pro772Ser
XM_011516186.3:c.2614C>T	XP_011514488.1:p.Pro872Ser
XM_017012195.1:c.2464C>T	XP_016867684.1:p.Pro822Ser
XM_017012196.1:c.2437C>T	XP_016867685.1:p.Pro813Ser
NM_000238.4:c.2614C>T MANE Select	NP_000229.1:p.Pro872Ser
NM_172057.3:c.1594C>T	NP_742054.1:p.Pro532Ser