Canonical Allele Identifier: CA9314098

Gene: CRLF1

Linked Data

• dbSNP Id: rs147108114
• ExAC: 19:18707737 T / G
• gnomAD v2: 19-18707737-T-G
• gnomAD v3: 19-18596927-T-G
• gnomAD v4: 19-18596927-T-G
• MyVariant Identifiers: chr19:g.18707737T>G (hg19) ; chr19:g.18596927T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18596927T>G , CM000681.2:g.18596927T>G	GRCh38
NC_000019.9:g.18707737T>G , CM000681.1:g.18707737T>G	GRCh37
NC_000019.8:g.18568737T>G	NCBI36
NG_013370.1:g.14924A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.820A>C	ENSP00000506849.1:p.Ile274Leu
ENST00000392386.8:c.820A>C MANE Select	ENSP00000376188.2:p.Ile274Leu
ENST00000392386.7:c.820A>C	ENSP00000376188.2:p.Ile274Leu
ENST00000597131.1:c.285A>C
NM_004750.4:c.820A>C	NP_004741.1:p.Ile274Leu
XM_011528422.1:c.754A>C	XP_011526724.1:p.Ile252Leu
XM_011528423.1:c.820A>C	XP_011526725.1:p.Ile274Leu
XM_011528424.1:c.754A>C	XP_011526726.1:p.Ile252Leu
XM_011528422.2:c.754A>C	XP_011526724.1:p.Ile252Leu
XM_011528423.2:c.820A>C	XP_011526725.1:p.Ile274Leu
XM_011528424.3:c.754A>C	XP_011526726.1:p.Ile252Leu
NM_004750.5:c.820A>C MANE Select	NP_004741.1:p.Ile274Leu