Canonical Allele Identifier: CA4370354

Gene: CYP3A43

Linked Data

• ClinVar Variation Id: 1278238
• ClinVar RCV Id: RCV001694979
• dbSNP Id: rs680055
• ExAC: 7:99457605 C / G
• gnomAD v2: 7-99457605-C-G
• gnomAD v3: 7-99859982-C-G
• gnomAD v4: 7-99859982-C-G
• MyVariant Identifiers: chr7:g.99457605C>G (hg19) ; chr7:g.99859982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99859982C>G , CM000669.2:g.99859982C>G	GRCh38
NC_000007.13:g.99457605C>G , CM000669.1:g.99457605C>G	GRCh37
NC_000007.12:g.99295541C>G	NCBI36
NG_007935.1:g.36970C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354829.7:c.1018C>G MANE Select	ENSP00000346887.3:p.Pro340Ala
ENST00000222382.5:c.1018C>G	ENSP00000222382.5:p.Pro340Ala
ENST00000312017.9:c.1018C>G	ENSP00000312110.5:p.Pro340Ala
ENST00000342499.8:c.*317C>G	ENSP00000345351.5:n.*317C>G
ENST00000354829.6:c.1018C>G	ENSP00000346887.2:p.Pro340Ala
ENST00000415413.5:c.385C>G	ENSP00000401521.1:p.Pro129Ala
ENST00000417625.5:c.688C>G	ENSP00000416581.1:p.Pro230Ala
ENST00000433277.5:c.*580C>G	ENSP00000400316.1:n.*580C>G
ENST00000434806.5:c.1139C>G	ENSP00000411653.1:n.1139C>G
ENST00000436834.5:c.*704C>G	ENSP00000415221.1:n.*704C>G
ENST00000444905.5:c.259C>G	ENSP00000405557.1:p.Pro87Ala
ENST00000463915.5:n.291C>G
ENST00000472352.1:n.451C>G
ENST00000477658.5:n.689C>G
ENST00000481362.5:n.1354C>G
ENST00000491648.5:n.486C>G
ENST00000495115.5:n.291C>G
NM_001278921.1:c.688C>G	NP_001265850.1:p.Pro230Ala
NM_022820.4:c.1018C>G	NP_073731.1:p.Pro340Ala
NM_057095.2:c.1018C>G	NP_476436.1:p.Pro340Ala
NM_057096.3:c.1018C>G	NP_476437.1:p.Pro340Ala
NR_103868.1:n.978C>G
NR_103869.1:n.1242C>G
XM_011516493.1:c.1018C>G	XP_011514795.1:p.Pro340Ala
XM_011516494.1:c.598C>G	XP_011514796.1:p.Pro200Ala
XM_017012544.1:c.586C>G	XP_016868033.1:p.Pro196Ala
XM_017012545.1:c.586C>G	XP_016868034.1:p.Pro196Ala
XM_024446877.1:c.688C>G	XP_024302645.1:p.Pro230Ala
NM_001278921.2:c.688C>G	NP_001265850.1:p.Pro230Ala
NM_022820.5:c.1018C>G	NP_073731.1:p.Pro340Ala
NM_057095.3:c.1018C>G MANE Select	NP_476436.1:p.Pro340Ala
NM_057096.4:c.1018C>G	NP_476437.1:p.Pro340Ala
NR_103868.2:n.978C>G
NR_103869.2:n.1242C>G