Canonical Allele Identifier: CA531942523
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1258260178
gnomAD v2: 2-38303465-A-T
gnomAD v3: 2-38076323-A-T
gnomAD v4: 2-38076323-A-T
MyVariant Identifiers: chr2:g.38303465A>T (hg19) chr2:g.38076323A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38076323A>T , CM000664.2:g.38076323A>T GRCh38
NC_000002.11:g.38303465A>T , CM000664.1:g.38303465A>T GRCh37
NC_000002.10:g.38156969A>T NCBI36
NG_008386.2:g.4779T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000494864.1:c.-70-5013T>A ENSP00000479876.1:n.-70-5013T>A
XM_011533236.1:c.937A>T XP_011531538.1:p.Met313Leu
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