Canonical Allele Identifier: CA11259095
Gene: ACVR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.157542998T>A , CM000664.2:g.157542998T>A GRCh38
NC_000002.11:g.158399510T>A , CM000664.1:g.158399510T>A GRCh37
NC_000002.10:g.158107756T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243349.13:c.944-136A>T MANE Select ENSP00000243349.7:n.944-136A>T
ENST00000243349.12:c.944-136A>T ENSP00000243349.7:n.944-136A>T
ENST00000335450.7:c.704-136A>T ENSP00000335178.7:n.704-136A>T
ENST00000348328.9:c.473-136A>T ENSP00000335139.6:n.473-136A>T
ENST00000409680.7:c.794-136A>T ENSP00000387168.3:n.794-136A>T
NM_001111031.1:c.794-136A>T NP_001104501.1:n.794-136A>T
NM_001111032.1:c.704-136A>T NP_001104502.1:n.704-136A>T
NM_001111033.1:c.473-136A>T NP_001104503.1:n.473-136A>T
NM_145259.2:c.944-136A>T NP_660302.2:n.944-136A>T
NM_145259.3:c.944-136A>T MANE Select NP_660302.2:n.944-136A>T
NM_001111032.2:c.704-136A>T NP_001104502.1:n.704-136A>T
NM_001111033.2:c.473-136A>T NP_001104503.1:n.473-136A>T
NM_001111031.2:c.794-136A>T NP_001104501.1:n.794-136A>T