Canonical Allele Identifier: CA2582191454

Gene: CBLC

Linked Data

• gnomAD v3: 19-44793745-A-C
• gnomAD v4: 19-44793745-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793745A>C , CM000681.2:g.44793745A>C	GRCh38
NC_000019.9:g.45297002A>C , CM000681.1:g.45297002A>C	GRCh37
NC_000019.8:g.49988842A>C	NCBI36
NG_054718.1:g.20891A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+125A>C MANE Select	ENSP00000494162.1:n.1284+125A>C
ENST00000270279.7:c.1284+125A>C	ENSP00000270279.3:n.1284+125A>C
ENST00000341505.4:c.1146+125A>C	ENSP00000340250.4:n.1146+125A>C
NM_001130852.1:c.1146+125A>C	NP_001124324.1:n.1146+125A>C
NM_012116.3:c.1284+125A>C	NP_036248.3:n.1284+125A>C
XM_005258696.2:c.1284+125A>C	XP_005258753.1:n.1284+125A>C
XM_011526688.1:c.1284+125A>C	XP_011524990.1:n.1284+125A>C
XM_011526689.1:c.1146+125A>C	XP_011524991.1:n.1146+125A>C
XR_935783.1:n.1231+125A>C
NM_012116.4:c.1284+125A>C MANE Select	NP_036248.3:n.1284+125A>C
XM_005258696.3:c.1284+125A>C	XP_005258753.1:n.1284+125A>C
XM_011526688.2:c.1284+125A>C	XP_011524990.1:n.1284+125A>C
XM_011526689.2:c.1146+125A>C	XP_011524991.1:n.1146+125A>C
XR_935783.2:n.1236+125A>C