Canonical Allele Identifier: CA506044553

Gene: CRLF1

Linked Data

• dbSNP Id: rs1976191052
• gnomAD v3: 19-18599575-G-C
• gnomAD v4: 19-18599575-G-C
• MyVariant Identifiers: chr19:g.18710385G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18599575G>C , CM000681.2:g.18599575G>C	GRCh38
NC_000019.9:g.18710385G>C , CM000681.1:g.18710385G>C	GRCh37
NC_000019.8:g.18571385G>C	NCBI36
NG_013370.1:g.12276C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.387C>G	ENSP00000506849.1:p.Leu129=
ENST00000392386.8:c.387C>G MANE Select	ENSP00000376188.2:p.Leu129=
ENST00000392386.7:c.387C>G	ENSP00000376188.2:p.Leu129=
NM_004750.4:c.387C>G	NP_004741.1:p.Leu129=
XM_011528422.1:c.321C>G	XP_011526724.1:p.Leu107=
XM_011528423.1:c.387C>G	XP_011526725.1:p.Leu129=
XM_011528424.1:c.321C>G	XP_011526726.1:p.Leu107=
XM_011528422.2:c.321C>G	XP_011526724.1:p.Leu107=
XM_011528423.2:c.387C>G	XP_011526725.1:p.Leu129=
XM_011528424.3:c.321C>G	XP_011526726.1:p.Leu107=
NM_004750.5:c.387C>G MANE Select	NP_004741.1:p.Leu129=