Canonical Allele Identifier: CA269565227
Gene: SHC4 HGNC NCBI

Linked Data

dbSNP Id: rs547578605
gnomAD v2: 15-49221544-C-T
gnomAD v3: 15-48929347-C-T
gnomAD v4: 15-48929347-C-T
MyVariant Identifiers: chr15:g.49221544C>T (hg19) chr15:g.48929347C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48929347C>T , CM000677.2:g.48929347C>T GRCh38
NC_000015.9:g.49221544C>T , CM000677.1:g.49221544C>T GRCh37
NC_000015.8:g.47008836C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000332408.9:c.586-4398G>A MANE Select ENSP00000329668.4:n.586-4398G>A
ENST00000332408.8:c.586-4398G>A ENSP00000329668.4:n.586-4398G>A
NM_203349.3:c.586-4398G>A NP_976224.3:n.586-4398G>A
XM_005254375.2:c.37-4398G>A XP_005254432.1:n.37-4398G>A
XM_011521552.1:c.-3-4398G>A XP_011519854.1:n.-3-4398G>A
XM_005254375.3:c.37-4398G>A XP_005254432.1:n.37-4398G>A
NM_203349.4:c.586-4398G>A MANE Select NP_976224.3:n.586-4398G>A
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