Canonical Allele Identifier: CA2574640684

Gene: CWF19L1

Linked Data

• gnomAD v4: 10-100245745-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100245745G>A , CM000672.2:g.100245745G>A	GRCh38
NC_000010.10:g.102005502G>A , CM000672.1:g.102005502G>A	GRCh37
NC_000010.9:g.101995492G>A	NCBI36
NG_041811.1:g.26937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.964+54C>T MANE Select	ENSP00000326411.6:n.964+54C>T
ENST00000354105.8:c.964+54C>T	ENSP00000326411.6:n.964+54C>T
ENST00000370379.1:c.229+54C>T	ENSP00000359405.1:n.229+54C>T
ENST00000466408.1:n.318+54C>T
ENST00000466955.5:n.505+54C>T
ENST00000468709.5:n.820+54C>T
ENST00000478047.1:n.1200-7514C>T
ENST00000482452.5:n.652+54C>T
NM_001303404.1:c.964+54C>T	NP_001290333.1:n.964+54C>T
NM_001303405.1:c.553+54C>T	NP_001290334.1:n.553+54C>T
NM_001303406.1:c.553+54C>T	NP_001290335.1:n.553+54C>T
NM_001303407.1:c.229+54C>T	NP_001290336.1:n.229+54C>T
NM_018294.5:c.964+54C>T	NP_060764.3:n.964+54C>T
NM_018294.6:c.964+54C>T MANE Select	NP_060764.3:n.964+54C>T
NM_001303404.2:c.964+54C>T	NP_001290333.1:n.964+54C>T
NM_001303405.2:c.553+54C>T	NP_001290334.1:n.553+54C>T
NM_001303406.2:c.553+54C>T	NP_001290335.1:n.553+54C>T
NM_001303407.2:c.229+54C>T	NP_001290336.1:n.229+54C>T