Canonical Allele Identifier: CA2658666378
Gene: CYP1B1 HGNC NCBI
RMDN2 HGNC NCBI

Linked Data

gnomAD v4: 2-38068780-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38068780G>A , CM000664.2:g.38068780G>A GRCh38
NC_000002.11:g.38295923G>A , CM000664.1:g.38295923G>A GRCh37
NC_000002.10:g.38149427G>A NCBI36
NG_008386.2:g.12322C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.*1942C>T (CYP1B1) ENSP00000478839.2:n.*1942C>T
ENST00000610745.5:c.*1942C>T (CYP1B1) MANE Select ENSP00000478561.1:n.*1942C>T
ENST00000491456.1:n.184+398C>T (CYP1B1)
ENST00000610745.4:c.*1942C>T (CYP1B1) ENSP00000478561.1:n.*1942C>T
NM_000104.3:c.*1942C>T (CYP1B1) NP_000095.2:n.*1942C>T
XR_939668.1:n.3780G>A (RMDN2)
XM_011532615.3:c.*1826G>A (RMDN2) XP_011530917.2:n.*1826G>A
XM_017003475.2:c.*1790G>A (RMDN2) XP_016858964.1:n.*1790G>A
XR_939668.3:n.3911G>A (RMDN2)
NM_000104.4:c.*1942C>T (CYP1B1) MANE Select NP_000095.2:n.*1942C>T
Search 100 bp 5'
Search 100 bp 3'