Canonical Allele Identifier: CA1918578

Gene: ACVR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.157538567C>G , CM000664.2:g.157538567C>G	GRCh38
NC_000002.11:g.158395079C>G , CM000664.1:g.158395079C>G	GRCh37
NC_000002.10:g.158103325C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_145259.3:c.1356+6G>C MANE Select	NP_660302.2:n.1356+6G>C
ENST00000243349.13:c.1356+6G>C MANE Select	ENSP00000243349.7:n.1356+6G>C
NM_001111031.1:c.1206+6G>C	NP_001104501.1:n.1206+6G>C
NM_001111031.2:c.1206+6G>C	NP_001104501.1:n.1206+6G>C
NM_001111032.1:c.1116+6G>C	NP_001104502.1:n.1116+6G>C
NM_001111032.2:c.1116+6G>C	NP_001104502.1:n.1116+6G>C
NM_001111033.1:c.885+6G>C	NP_001104503.1:n.885+6G>C
NM_001111033.2:c.885+6G>C	NP_001104503.1:n.885+6G>C
NM_145259.2:c.1356+6G>C	NP_660302.2:n.1356+6G>C
ENST00000243349.12:c.1356+6G>C	ENSP00000243349.7:n.1356+6G>C
ENST00000335450.7:c.1116+6G>C	ENSP00000335178.7:n.1116+6G>C
ENST00000348328.9:c.885+6G>C	ENSP00000335139.6:n.885+6G>C
ENST00000409680.7:c.1206+6G>C	ENSP00000387168.3:n.1206+6G>C