Canonical Allele Identifier: CA596746483
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs1380606983
gnomAD v2: 10-135340611-T-C
gnomAD v3: 10-133527107-T-C
gnomAD v4: 10-133527107-T-C
MyVariant Identifiers: chr10:g.135340611T>C (hg19) chr10:g.133527107T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133527107T>C , CM000672.2:g.133527107T>C GRCh38
NC_000010.10:g.135340611T>C , CM000672.1:g.135340611T>C GRCh37
NC_000010.9:g.135190601T>C NCBI36
NG_008383.1:g.4745T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463117.6:c.-40+234T>C ENSP00000440689.1:n.-40+234T>C
ENST00000541261.1:c.-40+234T>C ENSP00000437799.1:n.-40+234T>C
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