Canonical Allele Identifier: CA549707227
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs771046674
gnomAD v2: 4-4864369-T-C
gnomAD v4: 4-4862642-T-C
MyVariant Identifiers: chr4:g.4864369T>C (hg19) chr4:g.4862642T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862642T>C , CM000666.2:g.4862642T>C GRCh38
NC_000004.11:g.4864369T>C , CM000666.1:g.4864369T>C GRCh37
NC_000004.10:g.4915270T>C NCBI36
NG_008121.1:g.7978T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.470-59T>C MANE Select ENSP00000372170.4:n.470-59T>C
ENST00000382723.4:c.470-59T>C ENSP00000372170.4:n.470-59T>C
ENST00000468421.1:n.181+34T>C
NM_002448.3:c.470-59T>C MANE Select NP_002439.2:n.470-59T>C
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