Canonical Allele Identifier: CA306262324

Gene: CRLF1

Linked Data

• ClinVar Variation Id: 3047158
• ClinVar RCV Id: RCV003947048
• dbSNP Id: rs775994224
• gnomAD v2: 19-18710496-G-A
• gnomAD v3: 19-18599686-G-A
• gnomAD v4: 19-18599686-G-A
• COSMIC: COSM5056398
• MyVariant Identifiers: chr19:g.18710496G>A (hg19) ; chr19:g.18599686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18599686G>A , CM000681.2:g.18599686G>A	GRCh38
NC_000019.9:g.18710496G>A , CM000681.1:g.18710496G>A	GRCh37
NC_000019.8:g.18571496G>A	NCBI36
NG_013370.1:g.12165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.276C>T	ENSP00000506849.1:p.Asn92=
ENST00000392386.8:c.276C>T MANE Select	ENSP00000376188.2:p.Asn92=
ENST00000392386.7:c.276C>T	ENSP00000376188.2:p.Asn92=
NM_004750.4:c.276C>T	NP_004741.1:p.Asn92=
XM_011528422.1:c.210C>T	XP_011526724.1:p.Asn70=
XM_011528423.1:c.276C>T	XP_011526725.1:p.Asn92=
XM_011528424.1:c.210C>T	XP_011526726.1:p.Asn70=
XM_011528422.2:c.210C>T	XP_011526724.1:p.Asn70=
XM_011528423.2:c.276C>T	XP_011526725.1:p.Asn92=
XM_011528424.3:c.210C>T	XP_011526726.1:p.Asn70=
NM_004750.5:c.276C>T MANE Select	NP_004741.1:p.Asn92=