Canonical Allele Identifier: CA308901898

Gene: CBLC

Linked Data

• dbSNP Id: rs1025942028
• gnomAD v2: 19-45296869-C-G
• gnomAD v4: 19-44793612-C-G
• MyVariant Identifiers: chr19:g.45296869C>G (hg19) ; chr19:g.44793612C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793612C>G , CM000681.2:g.44793612C>G	GRCh38
NC_000019.9:g.45296869C>G , CM000681.1:g.45296869C>G	GRCh37
NC_000019.8:g.49988709C>G	NCBI36
NG_054718.1:g.20758C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1276C>G MANE Select	ENSP00000494162.1:p.Leu426Val
ENST00000270279.7:c.1276C>G	ENSP00000270279.3:p.Leu426Val
ENST00000341505.4:c.1138C>G	ENSP00000340250.4:p.Leu380Val
NM_001130852.1:c.1138C>G	NP_001124324.1:p.Leu380Val
NM_012116.3:c.1276C>G	NP_036248.3:p.Leu426Val
XM_005258696.2:c.1276C>G	XP_005258753.1:p.Leu426Val
XM_011526688.1:c.1276C>G	XP_011524990.1:p.Leu426Val
XM_011526689.1:c.1138C>G	XP_011524991.1:p.Leu380Val
XR_935783.1:n.1223C>G
NM_012116.4:c.1276C>G MANE Select	NP_036248.3:p.Leu426Val
XM_005258696.3:c.1276C>G	XP_005258753.1:p.Leu426Val
XM_011526688.2:c.1276C>G	XP_011524990.1:p.Leu426Val
XM_011526689.2:c.1138C>G	XP_011524991.1:p.Leu380Val
XR_935783.2:n.1228C>G