Canonical Allele Identifier: CA404851829

Gene: CRLF1

Linked Data

• dbSNP Id: rs1323625450
• gnomAD v2: 19-18710392-G-C
• gnomAD v4: 19-18599582-G-C
• MyVariant Identifiers: chr19:g.18710392G>C (hg19) ; chr19:g.18599582G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18599582G>C , CM000681.2:g.18599582G>C	GRCh38
NC_000019.9:g.18710392G>C , CM000681.1:g.18710392G>C	GRCh37
NC_000019.8:g.18571392G>C	NCBI36
NG_013370.1:g.12269C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.380C>G	ENSP00000506849.1:p.Ser127Cys
ENST00000392386.8:c.380C>G MANE Select	ENSP00000376188.2:p.Ser127Cys
ENST00000392386.7:c.380C>G	ENSP00000376188.2:p.Ser127Cys
NM_004750.4:c.380C>G	NP_004741.1:p.Ser127Cys
XM_011528422.1:c.314C>G	XP_011526724.1:p.Ser105Cys
XM_011528423.1:c.380C>G	XP_011526725.1:p.Ser127Cys
XM_011528424.1:c.314C>G	XP_011526726.1:p.Ser105Cys
XM_011528422.2:c.314C>G	XP_011526724.1:p.Ser105Cys
XM_011528423.2:c.380C>G	XP_011526725.1:p.Ser127Cys
XM_011528424.3:c.314C>G	XP_011526726.1:p.Ser105Cys
NM_004750.5:c.380C>G MANE Select	NP_004741.1:p.Ser127Cys