Canonical Allele Identifier: CA349221305

Gene: KCNH7

Linked Data

• MyVariant Identifiers: chr2:g.163292002G>C (hg19) ; chr2:g.162435492G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435492G>C , CM000664.2:g.162435492G>C	GRCh38
NC_000002.11:g.163292002G>C , CM000664.1:g.163292002G>C	GRCh37
NC_000002.10:g.163000248G>C	NCBI36
NG_041938.1:g.408256C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1660C>G MANE Select	ENSP00000331727.5:p.Leu554Val
ENST00000328032.8:c.1639C>G	ENSP00000333781.4:p.Leu547Val
ENST00000332142.9:c.1660C>G	ENSP00000331727.5:p.Leu554Val
ENST00000618399.4:c.1360C>G	ENSP00000482818.1:p.Leu454Val
ENST00000621889.1:c.1333C>G	ENSP00000483158.1:p.Leu445Val
NM_033272.3:c.1660C>G	NP_150375.2:p.Leu554Val
NM_173162.2:c.1639C>G	NP_775185.1:p.Leu547Val
XM_011512109.1:c.1684C>G	XP_011510411.1:p.Leu562Val
XM_011512109.3:c.1684C>G	XP_011510411.1:p.Leu562Val
XM_017005218.2:c.1684C>G	XP_016860707.1:p.Leu562Val
XM_017005219.2:c.1660C>G	XP_016860708.1:p.Leu554Val
XM_017005220.2:c.1639C>G	XP_016860709.1:p.Leu547Val
XM_017005221.2:c.1684C>G	XP_016860710.1:p.Leu562Val
NM_033272.4:c.1660C>G MANE Select	NP_150375.2:p.Leu554Val
NM_173162.3:c.1639C>G	NP_775185.1:p.Leu547Val