Canonical Allele Identifier: CA349221277

Gene: KCNH7

Linked Data

• dbSNP Id: rs1688203181
• MyVariant Identifiers: chr2:g.163291990T>G (hg19) ; chr2:g.162435480T>G (hg38)
• PubMed: PMID:28135719

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1672A>C MANE Select	ENSP00000331727.5:p.Ile558Leu
ENST00000328032.8:c.1651A>C	ENSP00000333781.4:p.Ile551Leu
ENST00000332142.9:c.1672A>C	ENSP00000331727.5:p.Ile558Leu
ENST00000618399.4:c.1372A>C	ENSP00000482818.1:p.Ile458Leu
ENST00000621889.1:c.1345A>C	ENSP00000483158.1:p.Ile449Leu
NM_033272.3:c.1672A>C	NP_150375.2:p.Ile558Leu
NM_173162.2:c.1651A>C	NP_775185.1:p.Ile551Leu
XM_011512109.1:c.1696A>C	XP_011510411.1:p.Ile566Leu
XM_011512109.3:c.1696A>C	XP_011510411.1:p.Ile566Leu
XM_017005218.2:c.1696A>C	XP_016860707.1:p.Ile566Leu
XM_017005219.2:c.1672A>C	XP_016860708.1:p.Ile558Leu
XM_017005220.2:c.1651A>C	XP_016860709.1:p.Ile551Leu
XM_017005221.2:c.1696A>C	XP_016860710.1:p.Ile566Leu
NM_033272.4:c.1672A>C MANE Select	NP_150375.2:p.Ile558Leu
NM_173162.3:c.1651A>C	NP_775185.1:p.Ile551Leu