Canonical Allele Identifier: CA349221295

Gene: KCNH7

Linked Data

• MyVariant Identifiers: chr2:g.163291997T>G (hg19) ; chr2:g.162435487T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435487T>G , CM000664.2:g.162435487T>G	GRCh38
NC_000002.11:g.163291997T>G , CM000664.1:g.163291997T>G	GRCh37
NC_000002.10:g.163000243T>G	NCBI36
NG_041938.1:g.408261A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1665A>C MANE Select	ENSP00000331727.5:p.Leu555Phe
ENST00000328032.8:c.1644A>C	ENSP00000333781.4:p.Leu548Phe
ENST00000332142.9:c.1665A>C	ENSP00000331727.5:p.Leu555Phe
ENST00000618399.4:c.1365A>C	ENSP00000482818.1:p.Leu455Phe
ENST00000621889.1:c.1338A>C	ENSP00000483158.1:p.Leu446Phe
NM_033272.3:c.1665A>C	NP_150375.2:p.Leu555Phe
NM_173162.2:c.1644A>C	NP_775185.1:p.Leu548Phe
XM_011512109.1:c.1689A>C	XP_011510411.1:p.Leu563Phe
XM_011512109.3:c.1689A>C	XP_011510411.1:p.Leu563Phe
XM_017005218.2:c.1689A>C	XP_016860707.1:p.Leu563Phe
XM_017005219.2:c.1665A>C	XP_016860708.1:p.Leu555Phe
XM_017005220.2:c.1644A>C	XP_016860709.1:p.Leu548Phe
XM_017005221.2:c.1689A>C	XP_016860710.1:p.Leu563Phe
NM_033272.4:c.1665A>C MANE Select	NP_150375.2:p.Leu555Phe
NM_173162.3:c.1644A>C	NP_775185.1:p.Leu548Phe