Canonical Allele Identifier: CA349220980

Gene: KCNH7

Linked Data

• dbSNP Id: rs1433456731
• gnomAD v2: 2-163291860-T-C
• gnomAD v3: 2-162435350-T-C
• gnomAD v4: 2-162435350-T-C
• COSMIC: COSM5465141 ; COSM5465142
• MyVariant Identifiers: chr2:g.163291860T>C (hg19) ; chr2:g.162435350T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435350T>C , CM000664.2:g.162435350T>C	GRCh38
NC_000002.11:g.163291860T>C , CM000664.1:g.163291860T>C	GRCh37
NC_000002.10:g.163000106T>C	NCBI36
NG_041938.1:g.408398A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1802A>G MANE Select	ENSP00000331727.5:p.Asp601Gly
ENST00000328032.8:c.1781A>G	ENSP00000333781.4:p.Asp594Gly
ENST00000332142.9:c.1802A>G	ENSP00000331727.5:p.Asp601Gly
ENST00000618399.4:c.1502A>G	ENSP00000482818.1:p.Asp501Gly
ENST00000621889.1:c.1475A>G	ENSP00000483158.1:p.Asp492Gly
NM_033272.3:c.1802A>G	NP_150375.2:p.Asp601Gly
NM_173162.2:c.1781A>G	NP_775185.1:p.Asp594Gly
XM_011512109.1:c.1826A>G	XP_011510411.1:p.Asp609Gly
XM_011512109.3:c.1826A>G	XP_011510411.1:p.Asp609Gly
XM_017005218.2:c.1826A>G	XP_016860707.1:p.Asp609Gly
XM_017005219.2:c.1802A>G	XP_016860708.1:p.Asp601Gly
XM_017005220.2:c.1781A>G	XP_016860709.1:p.Asp594Gly
XM_017005221.2:c.1826A>G	XP_016860710.1:p.Asp609Gly
NM_033272.4:c.1802A>G MANE Select	NP_150375.2:p.Asp601Gly
NM_173162.3:c.1781A>G	NP_775185.1:p.Asp594Gly