Canonical Allele Identifier: CA349221148

Gene: KCNH7

Linked Data

• dbSNP Id: rs2105521822
• gnomAD v4: 2-162435425-A-G
• MyVariant Identifiers: chr2:g.163291935A>G (hg19) ; chr2:g.162435425A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435425A>G , CM000664.2:g.162435425A>G	GRCh38
NC_000002.11:g.163291935A>G , CM000664.1:g.163291935A>G	GRCh37
NC_000002.10:g.163000181A>G	NCBI36
NG_041938.1:g.408323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1727T>C MANE Select	ENSP00000331727.5:p.Val576Ala
ENST00000328032.8:c.1706T>C	ENSP00000333781.4:p.Val569Ala
ENST00000332142.9:c.1727T>C	ENSP00000331727.5:p.Val576Ala
ENST00000618399.4:c.1427T>C	ENSP00000482818.1:p.Val476Ala
ENST00000621889.1:c.1400T>C	ENSP00000483158.1:p.Val467Ala
NM_033272.3:c.1727T>C	NP_150375.2:p.Val576Ala
NM_173162.2:c.1706T>C	NP_775185.1:p.Val569Ala
XM_011512109.1:c.1751T>C	XP_011510411.1:p.Val584Ala
XM_011512109.3:c.1751T>C	XP_011510411.1:p.Val584Ala
XM_017005218.2:c.1751T>C	XP_016860707.1:p.Val584Ala
XM_017005219.2:c.1727T>C	XP_016860708.1:p.Val576Ala
XM_017005220.2:c.1706T>C	XP_016860709.1:p.Val569Ala
XM_017005221.2:c.1751T>C	XP_016860710.1:p.Val584Ala
NM_033272.4:c.1727T>C MANE Select	NP_150375.2:p.Val576Ala
NM_173162.3:c.1706T>C	NP_775185.1:p.Val569Ala