Canonical Allele Identifier: CA277471

Gene: CRLF1

Linked Data

• ClinVar Variation Id: 216913
• ClinVar RCV Id: RCV000195773
• dbSNP Id: rs768727082
• ExAC: 19:18707843 C / CG
• gnomAD v2: 19-18707843-C-CG
• gnomAD v3: 19-18597033-C-CG
• gnomAD v4: 19-18597033-C-CG
• MyVariant Identifiers: chr19:g.18707844dupG (hg19) ; chr19:g.18707843_18707844insG (hg19) ; chr19:g.18597034dupG (hg38) ; chr19:g.18597033_18597034insG (hg38)
• PubMed: PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18597039dup , CM000681.2:g.18597039dup	GRCh38
NC_000019.9:g.18707849dup , CM000681.1:g.18707849dup	GRCh37
NC_000019.8:g.18568849dup	NCBI36
NG_013370.1:g.14817dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684169.1:c.713dup	ENSP00000506849.1:p.Pro239AlafsTer?
ENST00000392386.8:c.713dup MANE Select	ENSP00000376188.2:p.Pro239AlafsTer?
ENST00000392386.7:c.713dup	ENSP00000376188.2:p.Pro239AlafsTer?
ENST00000597131.1:c.178dup
NM_004750.4:c.713dup	NP_004741.1:p.Pro239AlafsTer?
XM_011528422.1:c.647dup	XP_011526724.1:p.Pro217AlafsTer?
XM_011528423.1:c.713dup	XP_011526725.1:p.Pro239AlafsTer?
XM_011528424.1:c.647dup	XP_011526726.1:p.Pro217AlafsTer?
XM_011528422.2:c.647dup	XP_011526724.1:p.Pro217AlafsTer?
XM_011528423.2:c.713dup	XP_011526725.1:p.Pro239AlafsTer?
XM_011528424.3:c.647dup	XP_011526726.1:p.Pro217AlafsTer?
NM_004750.5:c.713dup MANE Select	NP_004741.1:p.Pro239AlafsTer?