Canonical Allele Identifier: CA9314048

Gene: CRLF1

Linked Data

• ClinVar Variation Id: 929437
• ClinVar RCV Id: RCV001268950
• dbSNP Id: rs137853933
• ExAC: 19:18707521 C / A
• gnomAD v2: 19-18707521-C-A
• gnomAD v4: 19-18596711-C-A
• MyVariant Identifiers: chr19:g.18707521C>A (hg19) ; chr19:g.18596711C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18596711C>A , CM000681.2:g.18596711C>A	GRCh38
NC_000019.9:g.18707521C>A , CM000681.1:g.18707521C>A	GRCh37
NC_000019.8:g.18568521C>A	NCBI36
NG_013370.1:g.15140G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684169.1:c.935G>T	ENSP00000506849.1:p.Arg312Leu
ENST00000392386.8:c.935G>T MANE Select	ENSP00000376188.2:p.Arg312Leu
ENST00000392386.7:c.935G>T	ENSP00000376188.2:p.Arg312Leu
ENST00000597131.1:c.400G>T
NM_004750.4:c.935G>T	NP_004741.1:p.Arg312Leu
XM_011528422.1:c.869G>T	XP_011526724.1:p.Arg290Leu
XM_011528423.1:c.935G>T	XP_011526725.1:p.Arg312Leu
XM_011528424.1:c.869G>T	XP_011526726.1:p.Arg290Leu
XM_011528422.2:c.869G>T	XP_011526724.1:p.Arg290Leu
XM_011528423.2:c.935G>T	XP_011526725.1:p.Arg312Leu
XM_011528424.3:c.869G>T	XP_011526726.1:p.Arg290Leu
NM_004750.5:c.935G>T MANE Select	NP_004741.1:p.Arg312Leu