Canonical Allele Identifier: CA1523254

Gene: ADAM17 IAH1

Linked Data

• ClinVar Variation Id: 472726
• ClinVar RCV Id: RCV000535273
• dbSNP Id: rs79932015
• ExAC: 2:9630538 G / A
• gnomAD v2: 2-9630538-G-A
• gnomAD v3: 2-9490409-G-A
• gnomAD v4: 2-9490409-G-A
• COSMIC: COSM252321
• MyVariant Identifiers: chr2:g.9630538G>A (hg19) ; chr2:g.9490409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.9490409G>A , CM000664.2:g.9490409G>A	GRCh38
NC_000002.11:g.9630538G>A , CM000664.1:g.9630538G>A	GRCh37
NC_000002.10:g.9547989G>A	NCBI36
NG_029873.1:g.70380C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699315.1:n.2033C>T (ADAM17)
ENST00000699316.1:c.*2146C>T (ADAM17)	ENSP00000514295.1:n.*2146C>T
ENST00000699317.1:c.*3556C>T (ADAM17)	ENSP00000514296.1:n.*3556C>T
ENST00000699318.1:c.2153C>T (ADAM17)	ENSP00000514297.1:p.Ala718Val
ENST00000699319.1:n.4481C>T (ADAM17)
ENST00000699320.1:n.1384C>T (ADAM17)
ENST00000699321.1:c.*1573C>T (ADAM17)	ENSP00000514298.1:n.*1573C>T
ENST00000699322.1:n.1494C>T (ADAM17)
ENST00000310823.8:c.2243C>T (ADAM17) MANE Select	ENSP00000309968.3:p.Ala748Val
ENST00000647610.1:c.*1703C>T (ADAM17)	ENSP00000497929.1:n.*1703C>T
ENST00000647979.1:c.*1773C>T (ADAM17)	ENSP00000497542.1:n.*1773C>T
ENST00000648548.1:n.2470C>T (ADAM17)
ENST00000648857.1:n.2313C>T (ADAM17)
ENST00000649227.1:c.*2004C>T (ADAM17)	ENSP00000497830.1:n.*2004C>T
ENST00000649798.1:n.417C>T (ADAM17)
ENST00000650116.1:c.*2024C>T (ADAM17)	ENSP00000497592.1:n.*2024C>T
ENST00000310823.7:c.2243C>T (ADAM17)	ENSP00000309968.3:p.Ala748Val
ENST00000481367.5:c.749+2017G>A (IAH1)
NM_003183.4:c.2243C>T (ADAM17)	NP_003174.3:p.Ala748Val
XM_011510375.1:c.2150C>T (ADAM17)	XP_011508677.1:p.Ala717Val
XM_011510376.1:c.1583C>T (ADAM17)	XP_011508678.1:p.Ala528Val
XM_011510377.1:c.1346C>T (ADAM17)	XP_011508679.1:p.Ala449Val
XM_011510378.1:c.1346C>T (ADAM17)	XP_011508680.1:p.Ala449Val
XR_426950.2:n.845+2017G>A (IAH1)
XR_426953.2:n.760+2017G>A (IAH1)
XR_922675.1:n.845+2017G>A (IAH1)
XR_922676.1:n.845+2017G>A (IAH1)
XR_922677.1:n.845+2017G>A (IAH1)
XR_922678.1:n.845+2017G>A (IAH1)
NM_003183.6:c.2243C>T (ADAM17) MANE Select	NP_003174.3:p.Ala748Val
XM_011510375.3:c.2150C>T (ADAM17)	XP_011508677.1:p.Ala717Val
XM_011510376.3:c.1583C>T (ADAM17)	XP_011508678.1:p.Ala528Val
XM_017004785.2:c.1346C>T (ADAM17)	XP_016860274.1:p.Ala449Val
XM_017004786.2:c.1346C>T (ADAM17)	XP_016860275.1:p.Ala449Val
XM_024453056.1:c.1346C>T (ADAM17)	XP_024308824.1:p.Ala449Val
XR_001738718.1:n.845+2017G>A (IAH1)
XR_001738721.1:n.845+2017G>A (IAH1)
XR_001738722.1:n.760+2017G>A (IAH1)
XR_001738723.1:n.760+2017G>A (IAH1)
XR_001738724.1:n.760+2017G>A (IAH1)
XR_002959279.1:n.1417+2017G>A (IAH1)
XR_002959280.1:n.1417+2017G>A (IAH1)
XR_002959281.1:n.1417+2017G>A (IAH1)
XR_002959282.1:n.845+2017G>A (IAH1)
XR_426953.3:n.760+2017G>A (IAH1)
NM_001382777.1:c.1583C>T (ADAM17)	NP_001369706.1:p.Ala528Val
NM_001382778.1:c.1346C>T (ADAM17)	NP_001369707.1:p.Ala449Val