Canonical Allele Identifier: CA404851074

Gene: CRLF1

Linked Data

• dbSNP Id: rs1293552373
• gnomAD v2: 19-18707844-G-A
• gnomAD v3: 19-18597034-G-A
• gnomAD v4: 19-18597034-G-A
• COSMIC: COSM361954
• MyVariant Identifiers: chr19:g.18707844G>A (hg19) ; chr19:g.18597034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18597034G>A , CM000681.2:g.18597034G>A	GRCh38
NC_000019.9:g.18707844G>A , CM000681.1:g.18707844G>A	GRCh37
NC_000019.8:g.18568844G>A	NCBI36
NG_013370.1:g.14817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.713C>T	ENSP00000506849.1:p.Pro238Leu
ENST00000392386.8:c.713C>T MANE Select	ENSP00000376188.2:p.Pro238Leu
ENST00000392386.7:c.713C>T	ENSP00000376188.2:p.Pro238Leu
ENST00000597131.1:c.178C>T
NM_004750.4:c.713C>T	NP_004741.1:p.Pro238Leu
XM_011528422.1:c.647C>T	XP_011526724.1:p.Pro216Leu
XM_011528423.1:c.713C>T	XP_011526725.1:p.Pro238Leu
XM_011528424.1:c.647C>T	XP_011526726.1:p.Pro216Leu
XM_011528422.2:c.647C>T	XP_011526724.1:p.Pro216Leu
XM_011528423.2:c.713C>T	XP_011526725.1:p.Pro238Leu
XM_011528424.3:c.647C>T	XP_011526726.1:p.Pro216Leu
NM_004750.5:c.713C>T MANE Select	NP_004741.1:p.Pro238Leu