Canonical Allele Identifier: CA2610519750

Gene: CWF19L1

Linked Data

• gnomAD v4: 10-100237974-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100237974C>G , CM000672.2:g.100237974C>G	GRCh38
NC_000010.10:g.101997731C>G , CM000672.1:g.101997731C>G	GRCh37
NC_000010.9:g.101987721C>G	NCBI36
NG_041811.1:g.34708G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.1254+48G>C MANE Select	ENSP00000326411.6:n.1254+48G>C
ENST00000354105.8:c.1254+48G>C	ENSP00000326411.6:n.1254+48G>C
ENST00000370379.1:c.519+48G>C	ENSP00000359405.1:n.519+48G>C
ENST00000468709.5:n.1110+48G>C
ENST00000478047.1:n.1409+48G>C
ENST00000482452.5:n.937+48G>C
NM_001303404.1:c.1254+48G>C	NP_001290333.1:n.1254+48G>C
NM_001303405.1:c.843+48G>C	NP_001290334.1:n.843+48G>C
NM_001303406.1:c.843+48G>C	NP_001290335.1:n.843+48G>C
NM_001303407.1:c.519+48G>C	NP_001290336.1:n.519+48G>C
NM_018294.5:c.1254+48G>C	NP_060764.3:n.1254+48G>C
NM_018294.6:c.1254+48G>C MANE Select	NP_060764.3:n.1254+48G>C
NM_001303404.2:c.1254+48G>C	NP_001290333.1:n.1254+48G>C
NM_001303405.2:c.843+48G>C	NP_001290334.1:n.843+48G>C
NM_001303406.2:c.843+48G>C	NP_001290335.1:n.843+48G>C
NM_001303407.2:c.519+48G>C	NP_001290336.1:n.519+48G>C