Canonical Allele Identifier: CA349221329

Gene: KCNH7

Linked Data

• dbSNP Id: rs1688204071
• gnomAD v3: 2-162435504-C-G
• gnomAD v4: 2-162435504-C-G
• MyVariant Identifiers: chr2:g.163292014C>G (hg19) ; chr2:g.162435504C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435504C>G , CM000664.2:g.162435504C>G	GRCh38
NC_000002.11:g.163292014C>G , CM000664.1:g.163292014C>G	GRCh37
NC_000002.10:g.163000260C>G	NCBI36
NG_041938.1:g.408244G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1648G>C MANE Select	ENSP00000331727.5:p.Ala550Pro
ENST00000328032.8:c.1627G>C	ENSP00000333781.4:p.Ala543Pro
ENST00000332142.9:c.1648G>C	ENSP00000331727.5:p.Ala550Pro
ENST00000618399.4:c.1348G>C	ENSP00000482818.1:p.Ala450Pro
ENST00000621889.1:c.1321G>C	ENSP00000483158.1:p.Ala441Pro
NM_033272.3:c.1648G>C	NP_150375.2:p.Ala550Pro
NM_173162.2:c.1627G>C	NP_775185.1:p.Ala543Pro
XM_011512109.1:c.1672G>C	XP_011510411.1:p.Ala558Pro
XM_011512109.3:c.1672G>C	XP_011510411.1:p.Ala558Pro
XM_017005218.2:c.1672G>C	XP_016860707.1:p.Ala558Pro
XM_017005219.2:c.1648G>C	XP_016860708.1:p.Ala550Pro
XM_017005220.2:c.1627G>C	XP_016860709.1:p.Ala543Pro
XM_017005221.2:c.1672G>C	XP_016860710.1:p.Ala558Pro
NM_033272.4:c.1648G>C MANE Select	NP_150375.2:p.Ala550Pro
NM_173162.3:c.1627G>C	NP_775185.1:p.Ala543Pro