Canonical Allele Identifier: CA9127814

Gene: CD70

Linked Data

• ClinVar Variation Id: 2672737
• ClinVar RCV Id: RCV003457278 ; RCV003939051
• dbSNP Id: rs34080876
• ExAC: 19:6586190 G / A
• gnomAD v2: 19-6586190-G-A
• gnomAD v3: 19-6586179-G-A
• gnomAD v4: 19-6586179-G-A
• MyVariant Identifiers: chr19:g.6586190G>A (hg19) ; chr19:g.6586179G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6586179G>A , CM000681.2:g.6586179G>A	GRCh38
NC_000019.9:g.6586190G>A , CM000681.1:g.6586190G>A	GRCh37
NC_000019.8:g.6537190G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245903.4:c.423C>T MANE Select	ENSP00000245903.2:p.Ser141=
ENST00000245903.3:c.423C>T	ENSP00000245903.2:p.Ser141=
ENST00000423145.7:c.423C>T	ENSP00000395294.2:p.Ser141=
NM_001252.4:c.423C>T	NP_001243.1:p.Ser141=
NM_001330332.1:c.423C>T	NP_001317261.1:p.Ser141=
NM_001252.5:c.423C>T MANE Select	NP_001243.1:p.Ser141=
NM_001330332.2:c.423C>T	NP_001317261.1:p.Ser141=