Canonical Allele Identifier: CA608005

Gene: PRAMEF2 HNRNPCL1

Linked Data

• ClinVar Variation Id: 3025422
• ClinVar RCV Id: RCV003886298
• dbSNP Id: rs140362402
• ExAC: 1:12919634 T / C
• gnomAD v2: 1-12919634-T-C
• gnomAD v3: 1-12859779-T-C
• gnomAD v4: 1-12859779-T-C
• MyVariant Identifiers: chr1:g.12919634T>C (hg19) ; chr1:g.12859779T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12859779T>C , CM000663.2:g.12859779T>C	GRCh38
NC_000001.10:g.12919634T>C , CM000663.1:g.12919634T>C	GRCh37
NC_000001.9:g.12842221T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240189.2:c.374T>C (PRAMEF2) MANE Select	ENSP00000240189.2:p.Phe125Ser
ENST00000617044.1:c.-181-11309A>G (HNRNPCL1)	ENSP00000479365.1:n.-181-11309A>G
NM_023014.1:c.374T>C (PRAMEF2) MANE Select	NP_075390.1:p.Phe125Ser