Canonical Allele Identifier: CA2658667721

Gene: CYP1B1

Linked Data

• gnomAD v4: 2-38075078-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075080del , CM000664.2:g.38075080del	GRCh38
NC_000002.11:g.38302223del , CM000664.1:g.38302223del	GRCh37
NC_000002.10:g.38155727del	NCBI36
NG_008386.2:g.6023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.310del	ENSP00000478839.2:p.His104ThrfsTer?
ENST00000610745.5:c.310del MANE Select	ENSP00000478561.1:p.His104ThrfsTer?
ENST00000490576.1:c.310del	ENSP00000478839.1:p.His104ThrfsTer?
ENST00000494864.1:c.-70-3769del	ENSP00000479876.1:n.-70-3769del
ENST00000610745.4:c.310del	ENSP00000478561.1:p.His104ThrfsTer?
ENST00000613082.1:n.376-671del
ENST00000614273.1:c.310del	ENSP00000483678.1:p.His104ThrfsTer?
NM_000104.3:c.310del	NP_000095.2:p.His104ThrfsTer?
NM_000104.4:c.310del MANE Select	NP_000095.2:p.His104ThrfsTer?