Canonical Allele Identifier: CA342060

Gene: CRLF1

Linked Data

• ClinVar Variation Id: 39410
• ClinVar RCV Id: RCV000020614 ; RCV001731325
• dbSNP Id: rs104894670
• ExAC: 19:18710530 C / T
• gnomAD v2: 19-18710530-C-T
• gnomAD v3: 19-18599720-C-T
• gnomAD v4: 19-18599720-C-T
• MyVariant Identifiers: chr19:g.18710530C>T (hg19) ; chr19:g.18599720C>T (hg38)
• PubMed: PMID:21370513

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18599720C>T , CM000681.2:g.18599720C>T	GRCh38
NC_000019.9:g.18710530C>T , CM000681.1:g.18710530C>T	GRCh37
NC_000019.8:g.18571530C>T	NCBI36
NG_013370.1:g.12131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.242G>A	ENSP00000506849.1:p.Arg81His
ENST00000392386.8:c.242G>A MANE Select	ENSP00000376188.2:p.Arg81His
ENST00000392386.7:c.242G>A	ENSP00000376188.2:p.Arg81His
ENST00000593286.1:n.494G>A
NM_004750.4:c.242G>A	NP_004741.1:p.Arg81His
XM_011528422.1:c.176G>A	XP_011526724.1:p.Arg59His
XM_011528423.1:c.242G>A	XP_011526725.1:p.Arg81His
XM_011528424.1:c.176G>A	XP_011526726.1:p.Arg59His
XM_011528422.2:c.176G>A	XP_011526724.1:p.Arg59His
XM_011528423.2:c.242G>A	XP_011526725.1:p.Arg81His
XM_011528424.3:c.176G>A	XP_011526726.1:p.Arg59His
NM_004750.5:c.242G>A MANE Select	NP_004741.1:p.Arg81His