Canonical Allele Identifier: CA349221275

Gene: KCNH7

Linked Data

• MyVariant Identifiers: chr2:g.163291990T>A (hg19) ; chr2:g.162435480T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435480T>A , CM000664.2:g.162435480T>A	GRCh38
NC_000002.11:g.163291990T>A , CM000664.1:g.163291990T>A	GRCh37
NC_000002.10:g.163000236T>A	NCBI36
NG_041938.1:g.408268A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1672A>T MANE Select	ENSP00000331727.5:p.Ile558Phe
ENST00000328032.8:c.1651A>T	ENSP00000333781.4:p.Ile551Phe
ENST00000332142.9:c.1672A>T	ENSP00000331727.5:p.Ile558Phe
ENST00000618399.4:c.1372A>T	ENSP00000482818.1:p.Ile458Phe
ENST00000621889.1:c.1345A>T	ENSP00000483158.1:p.Ile449Phe
NM_033272.3:c.1672A>T	NP_150375.2:p.Ile558Phe
NM_173162.2:c.1651A>T	NP_775185.1:p.Ile551Phe
XM_011512109.1:c.1696A>T	XP_011510411.1:p.Ile566Phe
XM_011512109.3:c.1696A>T	XP_011510411.1:p.Ile566Phe
XM_017005218.2:c.1696A>T	XP_016860707.1:p.Ile566Phe
XM_017005219.2:c.1672A>T	XP_016860708.1:p.Ile558Phe
XM_017005220.2:c.1651A>T	XP_016860709.1:p.Ile551Phe
XM_017005221.2:c.1696A>T	XP_016860710.1:p.Ile566Phe
NM_033272.4:c.1672A>T MANE Select	NP_150375.2:p.Ile558Phe
NM_173162.3:c.1651A>T	NP_775185.1:p.Ile551Phe