Canonical Allele Identifier: CA14079728
Gene: SHC4 HGNC NCBI

Linked Data

dbSNP Id: rs10519201
gnomAD v2: 15-49221591-G-T
gnomAD v3: 15-48929394-G-T
gnomAD v4: 15-48929394-G-T
MyVariant Identifiers: chr15:g.49221591G>T (hg19) chr15:g.49221591_49221592delinsTA (hg19) chr15:g.48929394G>T (hg38) chr15:g.48929394_48929395delinsTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48929394G>T , CM000677.2:g.48929394G>T GRCh38
NC_000015.9:g.49221591G>T , CM000677.1:g.49221591G>T GRCh37
NC_000015.8:g.47008883G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000332408.9:c.586-4445C>A MANE Select ENSP00000329668.4:n.586-4445C>A
ENST00000332408.8:c.586-4445C>A ENSP00000329668.4:n.586-4445C>A
NM_203349.3:c.586-4445C>A NP_976224.3:n.586-4445C>A
XM_005254375.2:c.37-4445C>A XP_005254432.1:n.37-4445C>A
XM_011521552.1:c.-3-4445C>A XP_011519854.1:n.-3-4445C>A
XM_005254375.3:c.37-4445C>A XP_005254432.1:n.37-4445C>A
NM_203349.4:c.586-4445C>A MANE Select NP_976224.3:n.586-4445C>A
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