Canonical Allele Identifier: CA404850814

Gene: CRLF1

Linked Data

• dbSNP Id: rs1976143529
• gnomAD v4: 19-18596903-C-T
• MyVariant Identifiers: chr19:g.18707713C>T (hg19) ; chr19:g.18596903C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18596903C>T , CM000681.2:g.18596903C>T	GRCh38
NC_000019.9:g.18707713C>T , CM000681.1:g.18707713C>T	GRCh37
NC_000019.8:g.18568713C>T	NCBI36
NG_013370.1:g.14948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.844G>A	ENSP00000506849.1:p.Val282Met
ENST00000392386.8:c.844G>A MANE Select	ENSP00000376188.2:p.Val282Met
ENST00000392386.7:c.844G>A	ENSP00000376188.2:p.Val282Met
ENST00000597131.1:c.309G>A
NM_004750.4:c.844G>A	NP_004741.1:p.Val282Met
XM_011528422.1:c.778G>A	XP_011526724.1:p.Val260Met
XM_011528423.1:c.844G>A	XP_011526725.1:p.Val282Met
XM_011528424.1:c.778G>A	XP_011526726.1:p.Val260Met
XM_011528422.2:c.778G>A	XP_011526724.1:p.Val260Met
XM_011528423.2:c.844G>A	XP_011526725.1:p.Val282Met
XM_011528424.3:c.778G>A	XP_011526726.1:p.Val260Met
NM_004750.5:c.844G>A MANE Select	NP_004741.1:p.Val282Met