Canonical Allele Identifier: CA349221126

Gene: KCNH7

Linked Data

• dbSNP Id: rs1194862913
• gnomAD v2: 2-163291924-A-T
• gnomAD v4: 2-162435414-A-T
• MyVariant Identifiers: chr2:g.163291924A>T (hg19) ; chr2:g.162435414A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435414A>T , CM000664.2:g.162435414A>T	GRCh38
NC_000002.11:g.163291924A>T , CM000664.1:g.163291924A>T	GRCh37
NC_000002.10:g.163000170A>T	NCBI36
NG_041938.1:g.408334T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1738T>A MANE Select	ENSP00000331727.5:p.Tyr580Asn
ENST00000328032.8:c.1717T>A	ENSP00000333781.4:p.Tyr573Asn
ENST00000332142.9:c.1738T>A	ENSP00000331727.5:p.Tyr580Asn
ENST00000618399.4:c.1438T>A	ENSP00000482818.1:p.Tyr480Asn
ENST00000621889.1:c.1411T>A	ENSP00000483158.1:p.Tyr471Asn
NM_033272.3:c.1738T>A	NP_150375.2:p.Tyr580Asn
NM_173162.2:c.1717T>A	NP_775185.1:p.Tyr573Asn
XM_011512109.1:c.1762T>A	XP_011510411.1:p.Tyr588Asn
XM_011512109.3:c.1762T>A	XP_011510411.1:p.Tyr588Asn
XM_017005218.2:c.1762T>A	XP_016860707.1:p.Tyr588Asn
XM_017005219.2:c.1738T>A	XP_016860708.1:p.Tyr580Asn
XM_017005220.2:c.1717T>A	XP_016860709.1:p.Tyr573Asn
XM_017005221.2:c.1762T>A	XP_016860710.1:p.Tyr588Asn
NM_033272.4:c.1738T>A MANE Select	NP_150375.2:p.Tyr580Asn
NM_173162.3:c.1717T>A	NP_775185.1:p.Tyr573Asn