Canonical Allele Identifier: CA128454663
Gene: FCHSD1 HGNC NCBI

Linked Data

dbSNP Id: rs1048456
gnomAD v4: 5-141641152-T-G
MyVariant Identifiers: chr5:g.141020719T>G (hg19) chr5:g.141641152T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141641152T>G , CM000667.2:g.141641152T>G GRCh38
NC_000005.9:g.141020719T>G , CM000667.1:g.141020719T>G GRCh37
NC_000005.8:g.141000903T>G NCBI36
NG_029678.1:g.705A>C
NG_029678.2:g.705A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000435817.7:c.*346A>C MANE Select ENSP00000399259.2:n.*346A>C
ENST00000435817.6:c.*346A>C ENSP00000399259.2:n.*346A>C
ENST00000520747.1:n.1332A>C
ENST00000522126.5:c.*976A>C ENSP00000427796.1:n.*976A>C
ENST00000522783.5:c.*507A>C ENSP00000428677.1:n.*507A>C
ENST00000523856.5:n.2088A>C
NM_033449.2:c.*346A>C NP_258260.1:n.*346A>C
XM_005268524.3:c.*346A>C XP_005268581.1:n.*346A>C
XM_006714803.2:c.*346A>C XP_006714866.1:n.*346A>C
XM_005268524.5:c.*346A>C XP_005268581.1:n.*346A>C
XM_006714803.4:c.*346A>C XP_006714866.1:n.*346A>C
XM_011537698.3:c.*432A>C XP_011536000.1:n.*432A>C
XR_002956197.1:n.2738A>C
XR_427781.4:n.2411A>C
XR_944338.3:n.2444A>C
XR_944339.3:n.2490A>C
NM_033449.3:c.*346A>C MANE Select NP_258260.1:n.*346A>C
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