Canonical Allele Identifier: CA9448142

Gene: LTBP4

Linked Data

• ClinVar Variation Id: 504729
• ClinVar RCV Id: RCV000601046 ; RCV000958461 ; RCV001136426 ; RCV003915748
• dbSNP Id: rs374427407
• ExAC: 19:41112332 C / T
• gnomAD v2: 19-41112332-C-T
• gnomAD v3: 19-40606426-C-T
• gnomAD v4: 19-40606426-C-T
• MyVariant Identifiers: chr19:g.41112332C>T (hg19) ; chr19:g.40606426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40606426C>T , CM000681.2:g.40606426C>T	GRCh38
NC_000019.9:g.41112332C>T , CM000681.1:g.41112332C>T	GRCh37
NC_000019.8:g.45804172C>T	NCBI36
NG_021201.1:g.18261C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396819.8:c.891C>T MANE Select	ENSP00000380031.5:p.Gly297=
ENST00000204005.13:c.981C>T	ENSP00000204005.10:p.Gly327=
ENST00000308370.11:c.1092C>T	ENSP00000311905.8:p.Gly364=
ENST00000396819.7:c.891C>T	ENSP00000380031.4:p.Gly297=
ENST00000598717.5:n.429-4948C>T
NM_001042544.1:c.1092C>T	NP_001036009.1:p.Gly364=
NM_001042545.1:c.891C>T	NP_001036010.1:p.Gly297=
NM_003573.2:c.981C>T	NP_003564.2:p.Gly327=
XM_011527376.1:c.1092C>T	XP_011525678.1:p.Gly364=
XM_011527377.1:c.1125C>T	XP_011525679.1:p.Gly375=
XM_011527378.1:c.1125C>T	XP_011525680.1:p.Gly375=
XM_011527379.1:c.891C>T	XP_011525681.1:p.Gly297=
XM_011527380.1:c.1125C>T	XP_011525682.1:p.Gly375=
XM_011527381.1:c.1125C>T	XP_011525683.1:p.Gly375=
XM_011527382.1:c.1125C>T	XP_011525684.1:p.Gly375=
XM_011527383.1:c.1125C>T	XP_011525685.1:p.Gly375=
XM_011527384.1:c.1125C>T	XP_011525686.1:p.Gly375=
XM_011527385.1:c.1125C>T	XP_011525687.1:p.Gly375=
XM_011527386.1:c.1125C>T	XP_011525688.1:p.Gly375=
XM_011527387.1:c.483C>T	XP_011525689.1:p.Gly161=
XM_011527376.2:c.1092C>T	XP_011525678.1:p.Gly364=
XM_011527377.2:c.1125C>T	XP_011525679.1:p.Gly375=
XM_011527378.2:c.1125C>T	XP_011525680.1:p.Gly375=
XM_011527380.2:c.1125C>T	XP_011525682.1:p.Gly375=
XM_011527381.2:c.1125C>T	XP_011525683.1:p.Gly375=
XM_011527382.2:c.1125C>T	XP_011525684.1:p.Gly375=
XM_011527383.2:c.1125C>T	XP_011525685.1:p.Gly375=
XM_011527384.2:c.1125C>T	XP_011525686.1:p.Gly375=
XM_011527385.2:c.1125C>T	XP_011525687.1:p.Gly375=
XM_011527386.2:c.1125C>T	XP_011525688.1:p.Gly375=
XM_017027352.1:c.1125C>T	XP_016882841.1:p.Gly375=
XM_017027353.1:c.1125C>T	XP_016882842.1:p.Gly375=
XM_017027354.1:c.1125C>T	XP_016882843.1:p.Gly375=
NM_001042545.2:c.891C>T MANE Select	NP_001036010.1:p.Gly297=