Canonical Allele Identifier: CA595466879

Gene: CWF19L1

Linked Data

• dbSNP Id: rs1156920667
• gnomAD v2: 10-102005540-G-T
• gnomAD v3: 10-100245783-G-T
• gnomAD v4: 10-100245783-G-T
• MyVariant Identifiers: chr10:g.102005540G>T (hg19) ; chr10:g.100245783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100245783G>T , CM000672.2:g.100245783G>T	GRCh38
NC_000010.10:g.102005540G>T , CM000672.1:g.102005540G>T	GRCh37
NC_000010.9:g.101995530G>T	NCBI36
NG_041811.1:g.26899C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.964+16C>A MANE Select	ENSP00000326411.6:n.964+16C>A
ENST00000354105.8:c.964+16C>A	ENSP00000326411.6:n.964+16C>A
ENST00000370379.1:c.229+16C>A	ENSP00000359405.1:n.229+16C>A
ENST00000466408.1:n.318+16C>A
ENST00000466955.5:n.505+16C>A
ENST00000468709.5:n.820+16C>A
ENST00000478047.1:n.1200-7552C>A
ENST00000482452.5:n.652+16C>A
NM_001303404.1:c.964+16C>A	NP_001290333.1:n.964+16C>A
NM_001303405.1:c.553+16C>A	NP_001290334.1:n.553+16C>A
NM_001303406.1:c.553+16C>A	NP_001290335.1:n.553+16C>A
NM_001303407.1:c.229+16C>A	NP_001290336.1:n.229+16C>A
NM_018294.5:c.964+16C>A	NP_060764.3:n.964+16C>A
NM_018294.6:c.964+16C>A MANE Select	NP_060764.3:n.964+16C>A
NM_001303404.2:c.964+16C>A	NP_001290333.1:n.964+16C>A
NM_001303405.2:c.553+16C>A	NP_001290334.1:n.553+16C>A
NM_001303406.2:c.553+16C>A	NP_001290335.1:n.553+16C>A
NM_001303407.2:c.229+16C>A	NP_001290336.1:n.229+16C>A