Canonical Allele Identifier: CA349221318

Gene: KCNH7

Linked Data

• COSMIC: COSM1008397 ; COSM1590872
• MyVariant Identifiers: chr2:g.163292008G>T (hg19) ; chr2:g.162435498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435498G>T , CM000664.2:g.162435498G>T	GRCh38
NC_000002.11:g.163292008G>T , CM000664.1:g.163292008G>T	GRCh37
NC_000002.10:g.163000254G>T	NCBI36
NG_041938.1:g.408250C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1654C>A MANE Select	ENSP00000331727.5:p.Leu552Ile
ENST00000328032.8:c.1633C>A	ENSP00000333781.4:p.Leu545Ile
ENST00000332142.9:c.1654C>A	ENSP00000331727.5:p.Leu552Ile
ENST00000618399.4:c.1354C>A	ENSP00000482818.1:p.Leu452Ile
ENST00000621889.1:c.1327C>A	ENSP00000483158.1:p.Leu443Ile
NM_033272.3:c.1654C>A	NP_150375.2:p.Leu552Ile
NM_173162.2:c.1633C>A	NP_775185.1:p.Leu545Ile
XM_011512109.1:c.1678C>A	XP_011510411.1:p.Leu560Ile
XM_011512109.3:c.1678C>A	XP_011510411.1:p.Leu560Ile
XM_017005218.2:c.1678C>A	XP_016860707.1:p.Leu560Ile
XM_017005219.2:c.1654C>A	XP_016860708.1:p.Leu552Ile
XM_017005220.2:c.1633C>A	XP_016860709.1:p.Leu545Ile
XM_017005221.2:c.1678C>A	XP_016860710.1:p.Leu560Ile
NM_033272.4:c.1654C>A MANE Select	NP_150375.2:p.Leu552Ile
NM_173162.3:c.1633C>A	NP_775185.1:p.Leu545Ile