Canonical Allele Identifier: CA306260634

Gene: CRLF1

Linked Data

• dbSNP Id: rs910731707
• gnomAD v3: 19-18597020-C-A
• gnomAD v4: 19-18597020-C-A
• MyVariant Identifiers: chr19:g.18707830C>A (hg19) ; chr19:g.18597020C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18597020C>A , CM000681.2:g.18597020C>A	GRCh38
NC_000019.9:g.18707830C>A , CM000681.1:g.18707830C>A	GRCh37
NC_000019.8:g.18568830C>A	NCBI36
NG_013370.1:g.14831G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.727G>T	ENSP00000506849.1:p.Val243Leu
ENST00000392386.8:c.727G>T MANE Select	ENSP00000376188.2:p.Val243Leu
ENST00000392386.7:c.727G>T	ENSP00000376188.2:p.Val243Leu
ENST00000597131.1:c.192G>T
NM_004750.4:c.727G>T	NP_004741.1:p.Val243Leu
XM_011528422.1:c.661G>T	XP_011526724.1:p.Val221Leu
XM_011528423.1:c.727G>T	XP_011526725.1:p.Val243Leu
XM_011528424.1:c.661G>T	XP_011526726.1:p.Val221Leu
XM_011528422.2:c.661G>T	XP_011526724.1:p.Val221Leu
XM_011528423.2:c.727G>T	XP_011526725.1:p.Val243Leu
XM_011528424.3:c.661G>T	XP_011526726.1:p.Val221Leu
NM_004750.5:c.727G>T MANE Select	NP_004741.1:p.Val243Leu