Canonical Allele Identifier: CA9314111

Gene: CRLF1

Linked Data

• dbSNP Id: rs756906640
• ExAC: 19:18707794 C / G
• gnomAD v2: 19-18707794-C-G
• gnomAD v3: 19-18596984-C-G
• gnomAD v4: 19-18596984-C-G
• MyVariant Identifiers: chr19:g.18707794C>G (hg19) ; chr19:g.18707794_18707795delinsGG (hg19) ; chr19:g.18596984C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18596984C>G , CM000681.2:g.18596984C>G	GRCh38
NC_000019.9:g.18707794C>G , CM000681.1:g.18707794C>G	GRCh37
NC_000019.8:g.18568794C>G	NCBI36
NG_013370.1:g.14867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.763G>C	ENSP00000506849.1:p.Val255Leu
ENST00000392386.8:c.763G>C MANE Select	ENSP00000376188.2:p.Val255Leu
ENST00000392386.7:c.763G>C	ENSP00000376188.2:p.Val255Leu
ENST00000597131.1:c.228G>C
NM_004750.4:c.763G>C	NP_004741.1:p.Val255Leu
XM_011528422.1:c.697G>C	XP_011526724.1:p.Val233Leu
XM_011528423.1:c.763G>C	XP_011526725.1:p.Val255Leu
XM_011528424.1:c.697G>C	XP_011526726.1:p.Val233Leu
XM_011528422.2:c.697G>C	XP_011526724.1:p.Val233Leu
XM_011528423.2:c.763G>C	XP_011526725.1:p.Val255Leu
XM_011528424.3:c.697G>C	XP_011526726.1:p.Val233Leu
NM_004750.5:c.763G>C MANE Select	NP_004741.1:p.Val255Leu