Canonical Allele Identifier: CA9313999

Gene: CRLF1

Linked Data

• dbSNP Id: rs200022768
• ExAC: 19:18705170 G / A
• gnomAD v2: 19-18705170-G-A
• gnomAD v3: 19-18594360-G-A
• gnomAD v4: 19-18594360-G-A
• MyVariant Identifiers: chr19:g.18705170G>A (hg19) ; chr19:g.18594360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18594360G>A , CM000681.2:g.18594360G>A	GRCh38
NC_000019.9:g.18705170G>A , CM000681.1:g.18705170G>A	GRCh37
NC_000019.8:g.18566170G>A	NCBI36
NG_013370.1:g.17491C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684169.1:c.1099C>T	ENSP00000506849.1:p.Leu367Phe
ENST00000392386.8:c.1099C>T MANE Select	ENSP00000376188.2:p.Leu367Phe
ENST00000392386.7:c.1099C>T	ENSP00000376188.2:p.Leu367Phe
ENST00000594325.1:n.76C>T
NM_004750.4:c.1099C>T	NP_004741.1:p.Leu367Phe
XM_011528422.1:c.1033C>T	XP_011526724.1:p.Leu345Phe
XM_011528423.1:c.1099C>T	XP_011526725.1:p.Leu367Phe
XM_011528424.1:c.1033C>T	XP_011526726.1:p.Leu345Phe
XM_011528422.2:c.1033C>T	XP_011526724.1:p.Leu345Phe
XM_011528423.2:c.1099C>T	XP_011526725.1:p.Leu367Phe
XM_011528424.3:c.1033C>T	XP_011526726.1:p.Leu345Phe
NM_004750.5:c.1099C>T MANE Select	NP_004741.1:p.Leu367Phe