Canonical Allele Identifier: CA212886

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 8051
• ClinVar RCV Id: RCV000008517 ; RCV000235034 ; RCV000664547 ; RCV001813966 ; RCV001824563 ; RCV003460440
• dbSNP Id: rs786200905
• gnomAD v2: 11-47470726-T-C
• gnomAD v3: 11-47449174-T-C
• gnomAD v4: 11-47449174-T-C
• MyVariant Identifiers: chr11:g.47470726T>C (hg19) ; chr11:g.47449174T>C (hg38)
• PubMed: PMID:2245297 ; PMID:12651869 ; PMID:15282317 ; PMID:20301347

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47449174T>C , CM000673.2:g.47449174T>C	GRCh38
NC_000011.9:g.47470726T>C , CM000673.1:g.47470726T>C	GRCh37
NC_000011.8:g.47427302T>C	NCBI36
NG_008312.1:g.5005A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.6:c.-210A>G	ENSP00000298854.2:n.-210A>G
NM_005055.4:c.-210A>G	NP_005046.2:n.-210A>G
NM_032645.4:c.-210A>G	NP_116034.2:n.-210A>G