Canonical Allele Identifier: CA404851979

Gene: CRLF1

Linked Data

• dbSNP Id: rs973127225
• gnomAD v2: 19-18710465-G-T
• gnomAD v4: 19-18599655-G-T
• MyVariant Identifiers: chr19:g.18710465G>T (hg19) ; chr19:g.18599655G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18599655G>T , CM000681.2:g.18599655G>T	GRCh38
NC_000019.9:g.18710465G>T , CM000681.1:g.18710465G>T	GRCh37
NC_000019.8:g.18571465G>T	NCBI36
NG_013370.1:g.12196C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.307C>A	ENSP00000506849.1:p.Leu103Ile
ENST00000392386.8:c.307C>A MANE Select	ENSP00000376188.2:p.Leu103Ile
ENST00000392386.7:c.307C>A	ENSP00000376188.2:p.Leu103Ile
NM_004750.4:c.307C>A	NP_004741.1:p.Leu103Ile
XM_011528422.1:c.241C>A	XP_011526724.1:p.Leu81Ile
XM_011528423.1:c.307C>A	XP_011526725.1:p.Leu103Ile
XM_011528424.1:c.241C>A	XP_011526726.1:p.Leu81Ile
XM_011528422.2:c.241C>A	XP_011526724.1:p.Leu81Ile
XM_011528423.2:c.307C>A	XP_011526725.1:p.Leu103Ile
XM_011528424.3:c.241C>A	XP_011526726.1:p.Leu81Ile
NM_004750.5:c.307C>A MANE Select	NP_004741.1:p.Leu103Ile