Canonical Allele Identifier: CA9313984

Gene: CRLF1

Linked Data

• dbSNP Id: rs544957549
• ExAC: 19:18705054 T / G
• gnomAD v2: 19-18705054-T-G
• gnomAD v3: 19-18594244-T-G
• gnomAD v4: 19-18594244-T-G
• MyVariant Identifiers: chr19:g.18705054T>G (hg19) ; chr19:g.18594244T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18594244T>G , CM000681.2:g.18594244T>G	GRCh38
NC_000019.9:g.18705054T>G , CM000681.1:g.18705054T>G	GRCh37
NC_000019.8:g.18566054T>G	NCBI36
NG_013370.1:g.17607A>C

Transcript Alleles

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