Canonical Allele Identifier: CA595466357

Gene: CWF19L1

Linked Data

• dbSNP Id: rs1416226532
• gnomAD v2: 10-101997695-C-A
• gnomAD v3: 10-100237938-C-A
• gnomAD v4: 10-100237938-C-A
• COSMIC: COSN26435388
• MyVariant Identifiers: chr10:g.101997695C>A (hg19) ; chr10:g.100237938C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100237938C>A , CM000672.2:g.100237938C>A	GRCh38
NC_000010.10:g.101997695C>A , CM000672.1:g.101997695C>A	GRCh37
NC_000010.9:g.101987685C>A	NCBI36
NG_041811.1:g.34744G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.1254+84G>T MANE Select	ENSP00000326411.6:n.1254+84G>T
ENST00000354105.8:c.1254+84G>T	ENSP00000326411.6:n.1254+84G>T
ENST00000370379.1:c.519+84G>T	ENSP00000359405.1:n.519+84G>T
ENST00000468709.5:n.1110+84G>T
ENST00000478047.1:n.1409+84G>T
ENST00000482452.5:n.937+84G>T
NM_001303404.1:c.1254+84G>T	NP_001290333.1:n.1254+84G>T
NM_001303405.1:c.843+84G>T	NP_001290334.1:n.843+84G>T
NM_001303406.1:c.843+84G>T	NP_001290335.1:n.843+84G>T
NM_001303407.1:c.519+84G>T	NP_001290336.1:n.519+84G>T
NM_018294.5:c.1254+84G>T	NP_060764.3:n.1254+84G>T
NM_018294.6:c.1254+84G>T MANE Select	NP_060764.3:n.1254+84G>T
NM_001303404.2:c.1254+84G>T	NP_001290333.1:n.1254+84G>T
NM_001303405.2:c.843+84G>T	NP_001290334.1:n.843+84G>T
NM_001303406.2:c.843+84G>T	NP_001290335.1:n.843+84G>T
NM_001303407.2:c.519+84G>T	NP_001290336.1:n.519+84G>T