Canonical Allele Identifier: CA406307706

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793618-C-T
• MyVariant Identifiers: chr19:g.45296875C>T (hg19) ; chr19:g.44793618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793618C>T , CM000681.2:g.44793618C>T	GRCh38
NC_000019.9:g.45296875C>T , CM000681.1:g.45296875C>T	GRCh37
NC_000019.8:g.49988715C>T	NCBI36
NG_054718.1:g.20764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1282C>T MANE Select	ENSP00000494162.1:p.Gln428Ter
ENST00000270279.7:c.1282C>T	ENSP00000270279.3:p.Gln428Ter
ENST00000341505.4:c.1144C>T	ENSP00000340250.4:p.Gln382Ter
NM_001130852.1:c.1144C>T	NP_001124324.1:p.Gln382Ter
NM_012116.3:c.1282C>T	NP_036248.3:p.Gln428Ter
XM_005258696.2:c.1282C>T	XP_005258753.1:p.Gln428Ter
XM_011526688.1:c.1282C>T	XP_011524990.1:p.Gln428Ter
XM_011526689.1:c.1144C>T	XP_011524991.1:p.Gln382Ter
XR_935783.1:n.1229C>T
NM_012116.4:c.1282C>T MANE Select	NP_036248.3:p.Gln428Ter
XM_005258696.3:c.1282C>T	XP_005258753.1:p.Gln428Ter
XM_011526688.2:c.1282C>T	XP_011524990.1:p.Gln428Ter
XM_011526689.2:c.1144C>T	XP_011524991.1:p.Gln382Ter
XR_935783.2:n.1234C>T