Canonical Allele Identifier: CA2833087
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1022700
ClinVar RCV Id: RCV001322640
dbSNP Id: rs104893853
gnomAD v2: 4-4864581-C-G
gnomAD v3: 4-4862854-C-G
gnomAD v4: 4-4862854-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862854C>G , CM000666.2:g.4862854C>G GRCh38
NC_000004.11:g.4864581C>G , CM000666.1:g.4864581C>G GRCh37
NC_000004.10:g.4915482C>G NCBI36
NG_008121.1:g.8190C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.623C>G MANE Select ENSP00000372170.4:p.Ser208Trp
ENST00000382723.4:c.623C>G ENSP00000372170.4:p.Ser208Trp
ENST00000468421.1:n.335C>G
NM_002448.3:c.623C>G MANE Select NP_002439.2:p.Ser208Trp