Canonical Allele Identifier: CA633315185

Gene: CBLC

Linked Data

• dbSNP Id: rs374104325
• gnomAD v2: 19-45296716-C-T
• gnomAD v4: 19-44793459-C-T
• MyVariant Identifiers: chr19:g.45296716C>T (hg19) ; chr19:g.44793459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793459C>T , CM000681.2:g.44793459C>T	GRCh38
NC_000019.9:g.45296716C>T , CM000681.1:g.45296716C>T	GRCh37
NC_000019.8:g.49988556C>T	NCBI36
NG_054718.1:g.20605C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647358.2:c.1138-15C>T MANE Select	ENSP00000494162.1:n.1138-15C>T
ENST00000270279.7:c.1138-15C>T	ENSP00000270279.3:n.1138-15C>T
ENST00000341505.4:c.1000-15C>T	ENSP00000340250.4:n.1000-15C>T
NM_001130852.1:c.1000-15C>T	NP_001124324.1:n.1000-15C>T
NM_012116.3:c.1138-15C>T	NP_036248.3:n.1138-15C>T
XM_005258696.2:c.1138-15C>T	XP_005258753.1:n.1138-15C>T
XM_011526688.1:c.1138-15C>T	XP_011524990.1:n.1138-15C>T
XM_011526689.1:c.1000-15C>T	XP_011524991.1:n.1000-15C>T
XR_935783.1:n.1085-15C>T
NM_012116.4:c.1138-15C>T MANE Select	NP_036248.3:n.1138-15C>T
XM_005258696.3:c.1138-15C>T	XP_005258753.1:n.1138-15C>T
XM_011526688.2:c.1138-15C>T	XP_011524990.1:n.1138-15C>T
XM_011526689.2:c.1000-15C>T	XP_011524991.1:n.1000-15C>T
XR_935783.2:n.1090-15C>T