Canonical Allele Identifier: CA404852251

Gene: CRLF1

Linked Data

• ClinVar Variation Id: 1676201
• ClinVar RCV Id: RCV002287528
• gnomAD v4: 19-18599795-A-G
• MyVariant Identifiers: chr19:g.18710605A>G (hg19) ; chr19:g.18599795A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18599795A>G , CM000681.2:g.18599795A>G	GRCh38
NC_000019.9:g.18710605A>G , CM000681.1:g.18710605A>G	GRCh37
NC_000019.8:g.18571605A>G	NCBI36
NG_013370.1:g.12056T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.167T>C	ENSP00000506849.1:p.Leu56Pro
ENST00000392386.8:c.167T>C MANE Select	ENSP00000376188.2:p.Leu56Pro
ENST00000392386.7:c.167T>C	ENSP00000376188.2:p.Leu56Pro
ENST00000593286.1:n.419T>C
NM_004750.4:c.167T>C	NP_004741.1:p.Leu56Pro
XM_011528422.1:c.101T>C	XP_011526724.1:p.Leu34Pro
XM_011528423.1:c.167T>C	XP_011526725.1:p.Leu56Pro
XM_011528424.1:c.101T>C	XP_011526726.1:p.Leu34Pro
XM_011528422.2:c.101T>C	XP_011526724.1:p.Leu34Pro
XM_011528423.2:c.167T>C	XP_011526725.1:p.Leu56Pro
XM_011528424.3:c.101T>C	XP_011526726.1:p.Leu34Pro
NM_004750.5:c.167T>C MANE Select	NP_004741.1:p.Leu56Pro