Canonical Allele Identifier: CA1932839534

Gene: CYP17A1

Linked Data

• ClinVar Variation Id: 2030687
• ClinVar RCV Id: RCV002848456
• dbSNP Id: rs1844146007
• gnomAD v4: 10-102835247-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102835247C>A , CM000672.2:g.102835247C>A	GRCh38
NC_000010.10:g.104595004C>A , CM000672.1:g.104595004C>A	GRCh37
NC_000010.9:g.104584994C>A	NCBI36
NG_007955.1:g.7287G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.436+7G>T MANE Select	ENSP00000358903.3:n.436+7G>T
ENST00000638190.1:c.436+7G>T	ENSP00000492539.1:n.436+7G>T
ENST00000638272.1:c.297+1818G>T	ENSP00000491508.1:n.297+1818G>T
ENST00000638971.1:c.436+7G>T	ENSP00000492313.1:n.436+7G>T
ENST00000639393.1:c.436+7G>T	ENSP00000492651.1:n.436+7G>T
ENST00000640633.1:n.198+7G>T
ENST00000369887.3:c.436+7G>T	ENSP00000358903.3:n.436+7G>T
ENST00000489268.1:n.690+7G>T
NM_000102.3:c.436+7G>T	NP_000093.1:n.436+7G>T
NM_000102.4:c.436+7G>T MANE Select	NP_000093.1:n.436+7G>T