Canonical Allele Identifier: CA506044661

Gene: CRLF1

Linked Data

• dbSNP Id: rs146098226
• gnomAD v3: 19-18599713-C-A
• gnomAD v4: 19-18599713-C-A
• MyVariant Identifiers: chr19:g.18710523C>A (hg19) ; chr19:g.18599713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18599713C>A , CM000681.2:g.18599713C>A	GRCh38
NC_000019.9:g.18710523C>A , CM000681.1:g.18710523C>A	GRCh37
NC_000019.8:g.18571523C>A	NCBI36
NG_013370.1:g.12138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.249G>T	ENSP00000506849.1:p.Leu83=
ENST00000392386.8:c.249G>T MANE Select	ENSP00000376188.2:p.Leu83=
ENST00000392386.7:c.249G>T	ENSP00000376188.2:p.Leu83=
ENST00000593286.1:n.501G>T
NM_004750.4:c.249G>T	NP_004741.1:p.Leu83=
XM_011528422.1:c.183G>T	XP_011526724.1:p.Leu61=
XM_011528423.1:c.249G>T	XP_011526725.1:p.Leu83=
XM_011528424.1:c.183G>T	XP_011526726.1:p.Leu61=
XM_011528422.2:c.183G>T	XP_011526724.1:p.Leu61=
XM_011528423.2:c.249G>T	XP_011526725.1:p.Leu83=
XM_011528424.3:c.183G>T	XP_011526726.1:p.Leu61=
NM_004750.5:c.249G>T MANE Select	NP_004741.1:p.Leu83=