Canonical Allele Identifier: CA4369707
Gene: CYP3A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.99768470G>C
GRCh37 chr7:g.99366093G>C
Revel Score:
ENST00000354593 0.122
ENST00000336411 0.122
ENST00000544160 0.122
gnomAD v2:
7:99366093 G / C
gnomAD v3:
7:99768470 G / C
gnomAD v4:
chr7-99768470-G-C
Joint Max Group AF 0.00898284 (EAS)
Genomes Max Group AF 0.00178152 (EAS)
Exomes Max Group AF 0.00979466 (EAS)
dbSNP:
12721627
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99768470G>C , CM000669.2:g.99768470G>C GRCh38
NC_000007.13:g.99366093G>C , CM000669.1:g.99366093G>C GRCh37
NC_000007.12:g.99204029G>C NCBI36
NG_008421.1:g.20716C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.554C>G ENSP00000337915.3:p.Thr185Ser
ENST00000651514.1:c.554C>G MANE Select ENSP00000498939.1:p.Thr185Ser
ENST00000651783.1:c.95C>G ENSP00000498924.1:p.Thr32Ser
ENST00000652018.1:c.407C>G ENSP00000498733.1:p.Thr136Ser
ENST00000336411.6:c.554C>G ENSP00000337915.2:p.Thr185Ser
ENST00000354593.6:c.104C>G ENSP00000346607.2:p.Thr35Ser
NM_001202855.2:c.554C>G NP_001189784.1:p.Thr185Ser
NM_017460.5:c.554C>G NP_059488.2:p.Thr185Ser
XM_011515841.1:c.554C>G XP_011514143.1:p.Thr185Ser
XM_011515842.1:c.554C>G XP_011514144.1:p.Thr185Ser
NM_017460.6:c.554C>G MANE Select NP_059488.2:p.Thr185Ser
NM_001202855.3:c.554C>G NP_001189784.1:p.Thr185Ser
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