Canonical Allele Identifier: CA342064

Gene: CRLF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18598886G>A , CM000681.2:g.18598886G>A	GRCh38
NC_000019.9:g.18709696G>A , CM000681.1:g.18709696G>A	GRCh37
NC_000019.8:g.18570696G>A	NCBI36
NG_013370.1:g.12965C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004750.5:c.413C>T MANE Select	NP_004741.1:p.Pro138Leu
ENST00000392386.8:c.413C>T MANE Select	ENSP00000376188.2:p.Pro138Leu
NM_004750.4:c.413C>T	NP_004741.1:p.Pro138Leu
ENST00000392386.7:c.413C>T	ENSP00000376188.2:p.Pro138Leu
ENST00000684169.1:c.413C>T	ENSP00000506849.1:p.Pro138Leu
XM_011528422.1:c.347C>T	XP_011526724.1:p.Pro116Leu
XM_011528422.2:c.347C>T	XP_011526724.1:p.Pro116Leu
XM_011528423.1:c.413C>T	XP_011526725.1:p.Pro138Leu
XM_011528423.2:c.413C>T	XP_011526725.1:p.Pro138Leu
XM_011528424.1:c.347C>T	XP_011526726.1:p.Pro116Leu
XM_011528424.3:c.347C>T	XP_011526726.1:p.Pro116Leu