Canonical Allele Identifier: CA11063867
Gene: CYP1B1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.38076389G>A
GRCh37 chr2:g.38303531G>A
gnomAD v2:
2:38303531 G / A
gnomAD v3:
2:38076389 G / A
gnomAD v4:
chr2-38076389-G-A
Joint Max Group AF 0.35550319 (SAS)
Genomes Max Group AF 0.35492429 (SAS)
Exomes Max Group AF 0.29628477 (AMR)
ClinVar RCV:
RCV001522317
ClinVar Variation:
1170193
dbSNP:
2567206
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38076389G>A , CM000664.2:g.38076389G>A GRCh38
NC_000002.11:g.38303531G>A , CM000664.1:g.38303531G>A GRCh37
NC_000002.10:g.38157035G>A NCBI36
NG_008386.2:g.4713C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000494864.1:c.-70-5079C>T ENSP00000479876.1:n.-70-5079C>T
XM_011533236.1:c.1003G>A XP_011531538.1:p.Glu335Lys
Search 100 bp 5'
Search 100 bp 3'