Canonical Allele Identifier: CA400632903
Community Standard Title: NM_000334.4(SCN4A):c.1800C>G (p.Tyr600Ter)
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961238G>C , CM000679.2:g.63961238G>C GRCh38
NC_000017.10:g.62038598G>C , CM000679.1:g.62038598G>C GRCh37
NC_000017.9:g.59392330G>C NCBI36
NG_011699.1:g.16681C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000334.4:c.1800C>G MANE Select NP_000325.4:p.Tyr600Ter
ENST00000435607.3:c.1800C>G MANE Select ENSP00000396320.1:p.Tyr600Ter
ENST00000578147.5:c.1800C>G ENSP00000463963.1:p.Tyr600Ter
ENST00000581514.1:n.456C>G
XM_005257566.3:c.1800C>G XP_005257623.1:p.Tyr600Ter
XR_001752969.1:n.1276+516G>C
XR_934910.1:n.124+516G>C
XR_934910.2:n.1276+516G>C
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