Canonical Allele Identifier: CA170986
Gene: FOLR1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.72189920G>A
GRCh37 chr11:g.71900964G>A
gnomAD v2:
11:71900964 G / A
gnomAD v3:
11:72189920 G / A
gnomAD v4:
chr11-72189920-G-A
Joint Max Group AF 0.16407889 (EAS)
Genomes Max Group AF 0.16407889 (EAS)
ClinVar RCV:
RCV000144917
RCV001618293
ClinVar Variation:
157589
dbSNP:
2071010
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72189920G>A , CM000673.2:g.72189920G>A GRCh38
NC_000011.9:g.71900964G>A , CM000673.1:g.71900964G>A GRCh37
NC_000011.8:g.71578612G>A NCBI36
NG_015863.1:g.5363G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312293.9:c.-9+161G>A ENSP00000308137.4:n.-9+161G>A
ENST00000675784.1:c.-20G>A ENSP00000502440.1:n.-20G>A
ENST00000312293.8:c.-9+161G>A ENSP00000308137.4:n.-9+161G>A
ENST00000393681.6:c.-75+161G>A ENSP00000377286.2:n.-75+161G>A
NM_000802.3:c.-20G>A NP_000793.1:n.-20G>A
NM_016724.2:c.-75+161G>A NP_057936.1:n.-75+161G>A
NM_016725.2:c.-9+161G>A NP_057937.1:n.-9+161G>A
NM_016724.3:c.-75+161G>A NP_057936.1:n.-75+161G>A
NM_016725.3:c.-9+161G>A NP_057937.1:n.-9+161G>A
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