Canonical Allele Identifier: CA404850456

Gene: CRLF1

Linked Data

• dbSNP Id: rs1346010606
• gnomAD v2: 19-18707452-G-C
• gnomAD v4: 19-18596642-G-C
• MyVariant Identifiers: chr19:g.18707452G>C (hg19) ; chr19:g.18596642G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18596642G>C , CM000681.2:g.18596642G>C	GRCh38
NC_000019.9:g.18707452G>C , CM000681.1:g.18707452G>C	GRCh37
NC_000019.8:g.18568452G>C	NCBI36
NG_013370.1:g.15209C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.1004C>G	ENSP00000506849.1:p.Ala335Gly
ENST00000392386.8:c.1004C>G MANE Select	ENSP00000376188.2:p.Ala335Gly
ENST00000392386.7:c.1004C>G	ENSP00000376188.2:p.Ala335Gly
ENST00000597131.1:c.447+22C>G
NM_004750.4:c.1004C>G	NP_004741.1:p.Ala335Gly
XM_011528422.1:c.938C>G	XP_011526724.1:p.Ala313Gly
XM_011528423.1:c.1004C>G	XP_011526725.1:p.Ala335Gly
XM_011528424.1:c.938C>G	XP_011526726.1:p.Ala313Gly
XM_011528422.2:c.938C>G	XP_011526724.1:p.Ala313Gly
XM_011528423.2:c.1004C>G	XP_011526725.1:p.Ala335Gly
XM_011528424.3:c.938C>G	XP_011526726.1:p.Ala313Gly
NM_004750.5:c.1004C>G MANE Select	NP_004741.1:p.Ala335Gly