Canonical Allele Identifier: CA2833044
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs753498883
ExAC: 4:4864400 C / T
gnomAD v2: 4-4864400-C-T
gnomAD v3: 4-4862673-C-T
gnomAD v4: 4-4862673-C-T
MyVariant Identifiers: chr4:g.4864400C>T (hg19) chr4:g.4862673C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862673C>T , CM000666.2:g.4862673C>T GRCh38
NC_000004.11:g.4864400C>T , CM000666.1:g.4864400C>T GRCh37
NC_000004.10:g.4915301C>T NCBI36
NG_008121.1:g.8009C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.470-28C>T MANE Select ENSP00000372170.4:n.470-28C>T
ENST00000382723.4:c.470-28C>T ENSP00000372170.4:n.470-28C>T
ENST00000468421.1:n.182-28C>T
NM_002448.3:c.470-28C>T MANE Select NP_002439.2:n.470-28C>T
Search 100 bp 5'
Search 100 bp 3'