Canonical Allele Identifier: CA768427095
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1212904438
gnomAD v3: 2-38076412-C-G
gnomAD v4: 2-38076412-C-G
MyVariant Identifiers: chr2:g.38303554C>G (hg19) chr2:g.38076412C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38076412C>G , CM000664.2:g.38076412C>G GRCh38
NC_000002.11:g.38303554C>G , CM000664.1:g.38303554C>G GRCh37
NC_000002.10:g.38157058C>G NCBI36
NG_008386.2:g.4690G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000494864.1:c.-70-5102G>C ENSP00000479876.1:n.-70-5102G>C
XM_011533236.1:c.1026C>G XP_011531538.1:p.Asn342Lys
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