Canonical Allele Identifier: CA10974900
Gene: CR1L HGNC NCBI
COSMIC:
COSN19697640 (not active)
MyVariant.info:
GRCh38 chr1:g.207701830G>T
GRCh37 chr1:g.207875175G>T
gnomAD v2:
1:207875175 G / T
gnomAD v3:
1:207701830 G / T
gnomAD v4:
chr1-207701830-G-T
Joint Max Group AF 0.45540252 (AMR)
Genomes Max Group AF 0.42179723 (AMR)
Exomes Max Group AF 0.4676685 (AMR)
dbSNP:
4844614
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207701830G>T , CM000663.2:g.207701830G>T GRCh38
NC_000001.10:g.207875175G>T , CM000663.1:g.207875175G>T GRCh37
NC_000001.9:g.205941798G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000508064.7:c.1328+212G>T MANE Select ENSP00000421736.2:n.1328+212G>T
ENST00000294997.10:c.1160+212G>T ENSP00000434864.1:n.1160+212G>T
ENST00000508064.6:c.1328+212G>T ENSP00000421736.2:n.1328+212G>T
ENST00000530905.1:n.494-8552G>T
NM_175710.1:c.1328+212G>T NP_783641.1:n.1328+212G>T
NM_175710.2:c.1328+212G>T MANE Select NP_783641.1:n.1328+212G>T
Search 100 bp 5'
Search 100 bp 3'