Canonical Allele Identifier: CA723378689

Gene: VAC14

Linked Data

• dbSNP Id: rs875858
• gnomAD v3: 16-70741552-C-A
• gnomAD v4: 16-70741552-C-A
• MyVariant Identifiers: chr16:g.70775455C>A (hg19) ; chr16:g.70741552C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70741552C>A , CM000678.2:g.70741552C>A	GRCh38
NC_000016.9:g.70775455C>A , CM000678.1:g.70775455C>A	GRCh37
NC_000016.8:g.69332956C>A	NCBI36
NG_054902.1:g.64618G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261776.10:c.1528+2871G>T MANE Select	ENSP00000261776.5:n.1528+2871G>T
ENST00000261776.9:c.1528+2871G>T	ENSP00000261776.5:n.1528+2871G>T
ENST00000561879.1:n.214+2871G>T
ENST00000563662.2:c.234+2871G>T
ENST00000564685.5:n.216+2871G>T
ENST00000566416.1:c.158+2871G>T
ENST00000568548.5:c.*1254+2871G>T	ENSP00000454650.1:n.*1254+2871G>T
ENST00000568886.5:c.*153+2871G>T	ENSP00000457809.1:n.*153+2871G>T
NM_018052.3:c.1528+2871G>T	NP_060522.3:n.1528+2871G>T
XM_005256038.2:c.1528+2871G>T	XP_005256095.1:n.1528+2871G>T
XM_005256041.2:c.1528+2871G>T	XP_005256098.2:n.1528+2871G>T
XM_011523223.1:c.1528+2871G>T	XP_011521525.1:n.1528+2871G>T
XM_011523224.1:c.1528+2871G>T	XP_011521526.1:n.1528+2871G>T
XM_011523225.1:c.1528+2871G>T	XP_011521527.1:n.1528+2871G>T
NM_001351157.1:c.826+2871G>T	NP_001338086.1:n.826+2871G>T
NM_018052.4:c.1528+2871G>T	NP_060522.3:n.1528+2871G>T
XM_005256038.4:c.1528+2871G>T	XP_005256095.1:n.1528+2871G>T
XM_005256041.4:c.1528+2871G>T	XP_005256098.2:n.1528+2871G>T
XM_011523223.3:c.1528+2871G>T	XP_011521525.1:n.1528+2871G>T
XM_011523224.3:c.1528+2871G>T	XP_011521526.1:n.1528+2871G>T
XM_011523225.3:c.1528+2871G>T	XP_011521527.1:n.1528+2871G>T
XM_017023441.2:c.1528+2871G>T	XP_016878930.1:n.1528+2871G>T
XM_017023442.2:c.1528+2871G>T	XP_016878931.1:n.1528+2871G>T
NM_018052.5:c.1528+2871G>T MANE Select	NP_060522.3:n.1528+2871G>T
NM_001351157.2:c.826+2871G>T	NP_001338086.1:n.826+2871G>T