Canonical Allele Identifier: CA1729177289
Community Standard Title: NM_017460.6(CYP3A4):c.1247C= (p.Pro416=)
Gene: CYP3A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99762047G= , CM000669.2:g.99762047G= GRCh38
NC_000007.13:g.99359670G= , CM000669.1:g.99359670G= GRCh37
NC_000007.12:g.99197606G= NCBI36
NG_008421.1:g.27139C=

Transcript Alleles

HGVS Amino-acid Change
NM_017460.6:c.1247C= MANE Select NP_059488.2:p.Pro416=
ENST00000651514.1:c.1247C= MANE Select ENSP00000498939.1:p.Pro416=
NM_001202855.2:c.1244C= NP_001189784.1:p.Pro415=
NM_001202855.3:c.1244C= NP_001189784.1:p.Pro415=
NM_017460.5:c.1247C= NP_059488.2:p.Pro416=
ENST00000336411.6:c.1247C= ENSP00000337915.2:p.Pro416=
ENST00000336411.7:c.1247C= ENSP00000337915.3:p.Pro416=
ENST00000354593.6:c.797C= ENSP00000346607.2:p.Pro266=
ENST00000651162.1:n.682C=
ENST00000651783.1:c.788C= ENSP00000498924.1:p.Pro263=
ENST00000652018.1:c.1100C= ENSP00000498733.1:p.Pro367=
XM_011515841.1:c.1247C= XP_011514143.1:p.Pro416=
XM_011515842.1:c.1244C= XP_011514144.1:p.Pro415=