Canonical Allele Identifier: CA9314094
Gene: CRLF1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.18596918G>C
GRCh37 chr19:g.18707728G>C
Revel Score:
ENST00000392386 (MANE Select) 0.467
gnomAD v2:
19:18707728 G / C
gnomAD v3:
19:18596918 G / C
gnomAD v4:
chr19-18596918-G-C
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18596918G>C , CM000681.2:g.18596918G>C GRCh38
NC_000019.9:g.18707728G>C , CM000681.1:g.18707728G>C GRCh37
NC_000019.8:g.18568728G>C NCBI36
NG_013370.1:g.14933C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684169.1:c.829C>G ENSP00000506849.1:p.Arg277Gly
ENST00000392386.8:c.829C>G MANE Select ENSP00000376188.2:p.Arg277Gly
ENST00000392386.7:c.829C>G ENSP00000376188.2:p.Arg277Gly
ENST00000597131.1:c.294C>G
NM_004750.4:c.829C>G NP_004741.1:p.Arg277Gly
XM_011528422.1:c.763C>G XP_011526724.1:p.Arg255Gly
XM_011528423.1:c.829C>G XP_011526725.1:p.Arg277Gly
XM_011528424.1:c.763C>G XP_011526726.1:p.Arg255Gly
XM_011528422.2:c.763C>G XP_011526724.1:p.Arg255Gly
XM_011528423.2:c.829C>G XP_011526725.1:p.Arg277Gly
XM_011528424.3:c.763C>G XP_011526726.1:p.Arg255Gly
NM_004750.5:c.829C>G MANE Select NP_004741.1:p.Arg277Gly
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