Canonical Allele Identifier: CA9504131

Gene: CBLC

Linked Data

• dbSNP Id: rs199840214
• ExAC: 19:45296927 G / C
• gnomAD v2: 19-45296927-G-C
• gnomAD v3: 19-44793670-G-C
• gnomAD v4: 19-44793670-G-C
• MyVariant Identifiers: chr19:g.45296927G>C (hg19) ; chr19:g.44793670G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793670G>C , CM000681.2:g.44793670G>C	GRCh38
NC_000019.9:g.45296927G>C , CM000681.1:g.45296927G>C	GRCh37
NC_000019.8:g.49988767G>C	NCBI36
NG_054718.1:g.20816G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+50G>C MANE Select	ENSP00000494162.1:n.1284+50G>C
ENST00000270279.7:c.1284+50G>C	ENSP00000270279.3:n.1284+50G>C
ENST00000341505.4:c.1146+50G>C	ENSP00000340250.4:n.1146+50G>C
NM_001130852.1:c.1146+50G>C	NP_001124324.1:n.1146+50G>C
NM_012116.3:c.1284+50G>C	NP_036248.3:n.1284+50G>C
XM_005258696.2:c.1284+50G>C	XP_005258753.1:n.1284+50G>C
XM_011526688.1:c.1284+50G>C	XP_011524990.1:n.1284+50G>C
XM_011526689.1:c.1146+50G>C	XP_011524991.1:n.1146+50G>C
XR_935783.1:n.1231+50G>C
NM_012116.4:c.1284+50G>C MANE Select	NP_036248.3:n.1284+50G>C
XM_005258696.3:c.1284+50G>C	XP_005258753.1:n.1284+50G>C
XM_011526688.2:c.1284+50G>C	XP_011524990.1:n.1284+50G>C
XM_011526689.2:c.1146+50G>C	XP_011524991.1:n.1146+50G>C
XR_935783.2:n.1236+50G>C