Canonical Allele Identifier: CA406307613

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793604-A-G
• MyVariant Identifiers: chr19:g.45296861A>G (hg19) ; chr19:g.44793604A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793604A>G , CM000681.2:g.44793604A>G	GRCh38
NC_000019.9:g.45296861A>G , CM000681.1:g.45296861A>G	GRCh37
NC_000019.8:g.49988701A>G	NCBI36
NG_054718.1:g.20750A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1268A>G MANE Select	ENSP00000494162.1:p.Glu423Gly
ENST00000270279.7:c.1268A>G	ENSP00000270279.3:p.Glu423Gly
ENST00000341505.4:c.1130A>G	ENSP00000340250.4:p.Glu377Gly
NM_001130852.1:c.1130A>G	NP_001124324.1:p.Glu377Gly
NM_012116.3:c.1268A>G	NP_036248.3:p.Glu423Gly
XM_005258696.2:c.1268A>G	XP_005258753.1:p.Glu423Gly
XM_011526688.1:c.1268A>G	XP_011524990.1:p.Glu423Gly
XM_011526689.1:c.1130A>G	XP_011524991.1:p.Glu377Gly
XR_935783.1:n.1215A>G
NM_012116.4:c.1268A>G MANE Select	NP_036248.3:p.Glu423Gly
XM_005258696.3:c.1268A>G	XP_005258753.1:p.Glu423Gly
XM_011526688.2:c.1268A>G	XP_011524990.1:p.Glu423Gly
XM_011526689.2:c.1130A>G	XP_011524991.1:p.Glu377Gly
XR_935783.2:n.1220A>G