Canonical Allele Identifier: CA368371025
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1450918234
gnomAD v3: 7-99768432-T-C
gnomAD v4: 7-99768432-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99768432T>C , CM000669.2:g.99768432T>C GRCh38
NC_000007.13:g.99366055T>C , CM000669.1:g.99366055T>C GRCh37
NC_000007.12:g.99203991T>C NCBI36
NG_008421.1:g.20754A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.592A>G ENSP00000337915.3:p.Asn198Asp
ENST00000651514.1:c.592A>G MANE Select ENSP00000498939.1:p.Asn198Asp
ENST00000651783.1:c.133A>G ENSP00000498924.1:p.Asn45Asp
ENST00000652018.1:c.445A>G ENSP00000498733.1:p.Asn149Asp
ENST00000336411.6:c.592A>G ENSP00000337915.2:p.Asn198Asp
ENST00000354593.6:c.142A>G ENSP00000346607.2:p.Asn48Asp
NM_001202855.2:c.592A>G NP_001189784.1:p.Asn198Asp
NM_017460.5:c.592A>G NP_059488.2:p.Asn198Asp
XM_011515841.1:c.592A>G XP_011514143.1:p.Asn198Asp
XM_011515842.1:c.592A>G XP_011514144.1:p.Asn198Asp
NM_017460.6:c.592A>G MANE Select NP_059488.2:p.Asn198Asp
NM_001202855.3:c.592A>G NP_001189784.1:p.Asn198Asp