Canonical Allele Identifier: CA22450365

Gene: AGBL4

Linked Data

• dbSNP Id: rs979839320
• gnomAD v3: 1-49977943-C-T
• gnomAD v4: 1-49977943-C-T
• MyVariant Identifiers: chr1:g.50443615C>T (hg19) ; chr1:g.49977943C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.49977943C>T , CM000663.2:g.49977943C>T	GRCh38
NC_000001.10:g.50443615C>T , CM000663.1:g.50443615C>T	GRCh37
NC_000001.9:g.50216202C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371839.6:c.34+45820G>A MANE Select	ENSP00000360905.1:n.34+45820G>A
ENST00000371836.1:c.34+45820G>A	ENSP00000360902.1:n.34+45820G>A
ENST00000371838.5:c.34+45820G>A	ENSP00000360904.1:n.34+45820G>A
ENST00000371839.5:c.34+45820G>A	ENSP00000360905.1:n.34+45820G>A
NM_032785.3:c.34+45820G>A	NP_116174.3:n.34+45820G>A
XM_006710986.2:c.34+45820G>A	XP_006711049.1:n.34+45820G>A
XM_011542308.1:c.34+45820G>A	XP_011540610.1:n.34+45820G>A
XM_011542309.1:c.34+45820G>A	XP_011540611.1:n.34+45820G>A
XM_011542310.1:c.34+45820G>A	XP_011540612.1:n.34+45820G>A
XM_011542311.1:c.34+45820G>A	XP_011540613.1:n.34+45820G>A
NM_001323573.1:c.34+45820G>A	NP_001310502.1:n.34+45820G>A
NM_001323574.1:c.34+45820G>A	NP_001310503.1:n.34+45820G>A
NM_001323575.1:c.34+45820G>A	NP_001310504.1:n.34+45820G>A
NR_136623.1:n.192+45820G>A
XM_011542308.2:c.34+45820G>A	XP_011540610.1:n.34+45820G>A
XM_011542310.2:c.34+45820G>A	XP_011540612.1:n.34+45820G>A
XM_017002595.2:c.34+45820G>A	XP_016858084.1:n.34+45820G>A
XM_017002596.2:c.34+45820G>A	XP_016858085.1:n.34+45820G>A
XM_017002597.2:c.34+45820G>A	XP_016858086.1:n.34+45820G>A
XM_017002598.2:c.34+45820G>A	XP_016858087.1:n.34+45820G>A
XM_024450399.1:c.34+45820G>A	XP_024306167.1:n.34+45820G>A
NM_032785.4:c.34+45820G>A MANE Select	NP_116174.3:n.34+45820G>A
NM_001323573.2:c.34+45820G>A	NP_001310502.1:n.34+45820G>A
NM_001323574.2:c.34+45820G>A	NP_001310503.1:n.34+45820G>A
NM_001323575.2:c.34+45820G>A	NP_001310504.1:n.34+45820G>A
NR_136623.2:n.192+45820G>A