Canonical Allele Identifier: CA349221278

Gene: KCNH7

Linked Data

• MyVariant Identifiers: chr2:g.163291991G>C (hg19) ; chr2:g.162435481G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435481G>C , CM000664.2:g.162435481G>C	GRCh38
NC_000002.11:g.163291991G>C , CM000664.1:g.163291991G>C	GRCh37
NC_000002.10:g.163000237G>C	NCBI36
NG_041938.1:g.408267C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1671C>G MANE Select	ENSP00000331727.5:p.Cys557Trp
ENST00000328032.8:c.1650C>G	ENSP00000333781.4:p.Cys550Trp
ENST00000332142.9:c.1671C>G	ENSP00000331727.5:p.Cys557Trp
ENST00000618399.4:c.1371C>G	ENSP00000482818.1:p.Cys457Trp
ENST00000621889.1:c.1344C>G	ENSP00000483158.1:p.Cys448Trp
NM_033272.3:c.1671C>G	NP_150375.2:p.Cys557Trp
NM_173162.2:c.1650C>G	NP_775185.1:p.Cys550Trp
XM_011512109.1:c.1695C>G	XP_011510411.1:p.Cys565Trp
XM_011512109.3:c.1695C>G	XP_011510411.1:p.Cys565Trp
XM_017005218.2:c.1695C>G	XP_016860707.1:p.Cys565Trp
XM_017005219.2:c.1671C>G	XP_016860708.1:p.Cys557Trp
XM_017005220.2:c.1650C>G	XP_016860709.1:p.Cys550Trp
XM_017005221.2:c.1695C>G	XP_016860710.1:p.Cys565Trp
NM_033272.4:c.1671C>G MANE Select	NP_150375.2:p.Cys557Trp
NM_173162.3:c.1650C>G	NP_775185.1:p.Cys550Trp