Canonical Allele Identifier: CA308901892

Gene: CBLC

Linked Data

• dbSNP Id: rs994347051
• gnomAD v3: 19-44793603-G-A
• gnomAD v4: 19-44793603-G-A
• MyVariant Identifiers: chr19:g.45296860G>A (hg19) ; chr19:g.44793603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793603G>A , CM000681.2:g.44793603G>A	GRCh38
NC_000019.9:g.45296860G>A , CM000681.1:g.45296860G>A	GRCh37
NC_000019.8:g.49988700G>A	NCBI36
NG_054718.1:g.20749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1267G>A MANE Select	ENSP00000494162.1:p.Glu423Lys
ENST00000270279.7:c.1267G>A	ENSP00000270279.3:p.Glu423Lys
ENST00000341505.4:c.1129G>A	ENSP00000340250.4:p.Glu377Lys
NM_001130852.1:c.1129G>A	NP_001124324.1:p.Glu377Lys
NM_012116.3:c.1267G>A	NP_036248.3:p.Glu423Lys
XM_005258696.2:c.1267G>A	XP_005258753.1:p.Glu423Lys
XM_011526688.1:c.1267G>A	XP_011524990.1:p.Glu423Lys
XM_011526689.1:c.1129G>A	XP_011524991.1:p.Glu377Lys
XR_935783.1:n.1214G>A
NM_012116.4:c.1267G>A MANE Select	NP_036248.3:p.Glu423Lys
XM_005258696.3:c.1267G>A	XP_005258753.1:p.Glu423Lys
XM_011526688.2:c.1267G>A	XP_011524990.1:p.Glu423Lys
XM_011526689.2:c.1129G>A	XP_011524991.1:p.Glu377Lys
XR_935783.2:n.1219G>A