Canonical Allele Identifier: CA471297271
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1138192
ClinVar RCV Id: RCV001474437
dbSNP Id: rs375350911
gnomAD v3: 10-102834797-G-C
gnomAD v4: 10-102834797-G-C
MyVariant Identifiers: chr10:g.104594554G>C (hg19) chr10:g.102834797G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102834797G>C , CM000672.2:g.102834797G>C GRCh38
NC_000010.10:g.104594554G>C , CM000672.1:g.104594554G>C GRCh37
NC_000010.9:g.104584544G>C NCBI36
NG_007955.1:g.7737C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.654C>G MANE Select ENSP00000358903.3:p.Val218=
ENST00000638190.1:c.654C>G ENSP00000492539.1:p.Val218=
ENST00000638272.1:c.298-1589C>G ENSP00000491508.1:n.298-1589C>G
ENST00000638971.1:c.654C>G ENSP00000492313.1:p.Val218=
ENST00000639393.1:c.654C>G ENSP00000492651.1:p.Val218=
ENST00000640633.1:n.416C>G
ENST00000369887.3:c.654C>G ENSP00000358903.3:p.Val218=
ENST00000489268.1:n.908C>G
NM_000102.3:c.654C>G NP_000093.1:p.Val218=
NM_000102.4:c.654C>G MANE Select NP_000093.1:p.Val218=
Search 100 bp 5'
Search 100 bp 3'