Canonical Allele Identifier: CA404849998

Gene: CRLF1

Linked Data

• dbSNP Id: rs1326015349
• gnomAD v2: 19-18705056-C-T
• gnomAD v4: 19-18594246-C-T
• MyVariant Identifiers: chr19:g.18705056C>T (hg19) ; chr19:g.18594246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18594246C>T , CM000681.2:g.18594246C>T	GRCh38
NC_000019.9:g.18705056C>T , CM000681.1:g.18705056C>T	GRCh37
NC_000019.8:g.18566056C>T	NCBI36
NG_013370.1:g.17605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.1212+1G>A	ENSP00000506849.1:n.1212+1G>A
ENST00000392386.8:c.1212+1G>A MANE Select	ENSP00000376188.2:n.1212+1G>A
ENST00000392386.7:c.1212+1G>A	ENSP00000376188.2:n.1212+1G>A
ENST00000594325.1:n.189+1G>A
NM_004750.4:c.1212+1G>A	NP_004741.1:n.1212+1G>A
XM_011528422.1:c.1146+1G>A	XP_011526724.1:n.1146+1G>A
XM_011528423.1:c.1212+1G>A	XP_011526725.1:n.1212+1G>A
XM_011528424.1:c.1146+1G>A	XP_011526726.1:n.1146+1G>A
XM_011528422.2:c.1146+1G>A	XP_011526724.1:n.1146+1G>A
XM_011528423.2:c.1212+1G>A	XP_011526725.1:n.1212+1G>A
XM_011528424.3:c.1146+1G>A	XP_011526726.1:n.1146+1G>A
NM_004750.5:c.1212+1G>A MANE Select	NP_004741.1:n.1212+1G>A