Canonical Allele Identifier: CA406307444
Gene: CBLC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44793583G>A , CM000681.2:g.44793583G>A GRCh38
NC_000019.9:g.45296840G>A , CM000681.1:g.45296840G>A GRCh37
NC_000019.8:g.49988680G>A NCBI36
NG_054718.1:g.20729G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647358.2:c.1247G>A MANE Select ENSP00000494162.1:p.Ser416Asn
ENST00000270279.7:c.1247G>A ENSP00000270279.3:p.Ser416Asn
ENST00000341505.4:c.1109G>A ENSP00000340250.4:p.Ser370Asn
NM_001130852.1:c.1109G>A NP_001124324.1:p.Ser370Asn
NM_012116.3:c.1247G>A NP_036248.3:p.Ser416Asn
XM_005258696.2:c.1247G>A XP_005258753.1:p.Ser416Asn
XM_011526688.1:c.1247G>A XP_011524990.1:p.Ser416Asn
XM_011526689.1:c.1109G>A XP_011524991.1:p.Ser370Asn
XR_935783.1:n.1194G>A
NM_012116.4:c.1247G>A MANE Select NP_036248.3:p.Ser416Asn
XM_005258696.3:c.1247G>A XP_005258753.1:p.Ser416Asn
XM_011526688.2:c.1247G>A XP_011524990.1:p.Ser416Asn
XM_011526689.2:c.1109G>A XP_011524991.1:p.Ser370Asn
XR_935783.2:n.1199G>A