Canonical Allele Identifier: CA346327571

Gene: CYP1B1

Linked Data

• dbSNP Id: rs760381965
• gnomAD v4: 2-38071114-T-A
• MyVariant Identifiers: chr2:g.38298257T>A (hg19) ; chr2:g.38071114T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071114T>A , CM000664.2:g.38071114T>A	GRCh38
NC_000002.11:g.38298257T>A , CM000664.1:g.38298257T>A	GRCh37
NC_000002.10:g.38151761T>A	NCBI36
NG_008386.2:g.9988A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1240A>T	ENSP00000478839.2:p.Ile414Phe
ENST00000610745.5:c.1240A>T MANE Select	ENSP00000478561.1:p.Ile414Phe
ENST00000492443.1:n.618A>T
ENST00000494864.1:c.127A>T	ENSP00000479876.1:p.Ile43Phe
ENST00000610745.4:c.1240A>T	ENSP00000478561.1:p.Ile414Phe
ENST00000614273.1:c.1240A>T	ENSP00000483678.1:p.Ile414Phe
NM_000104.3:c.1240A>T	NP_000095.2:p.Ile414Phe
NM_000104.4:c.1240A>T MANE Select	NP_000095.2:p.Ile414Phe