Canonical Allele Identifier: CA356138902
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs766251853
gnomAD v2: 4-4864766-T-C
gnomAD v4: 4-4863039-T-C
MyVariant Identifiers: chr4:g.4864766T>C (hg19) chr4:g.4863039T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863039T>C , CM000666.2:g.4863039T>C GRCh38
NC_000004.11:g.4864766T>C , CM000666.1:g.4864766T>C GRCh37
NC_000004.10:g.4915667T>C NCBI36
NG_008121.1:g.8375T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.808T>C MANE Select ENSP00000372170.4:p.Ser270Pro
ENST00000382723.4:c.808T>C ENSP00000372170.4:p.Ser270Pro
NM_002448.3:c.808T>C MANE Select NP_002439.2:p.Ser270Pro
Search 100 bp 5'
Search 100 bp 3'