Canonical Allele Identifier: CA15409120
Gene: FCHSD1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.141647317T>C
GRCh37 chr5:g.141026884T>C
gnomAD v2:
5:141026884 T / C
gnomAD v3:
5:141647317 T / C
gnomAD v4:
chr5-141647317-T-C
Joint Max Group AF 0.35785451 (AFR)
Genomes Max Group AF 0.35423166 (AFR)
Exomes Max Group AF 0.35912225 (AFR)
dbSNP:
251177
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141647317T>C , CM000667.2:g.141647317T>C GRCh38
NC_000005.9:g.141026884T>C , CM000667.1:g.141026884T>C GRCh37
NC_000005.8:g.141007068T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435817.7:c.828+81A>G MANE Select ENSP00000399259.2:n.828+81A>G
ENST00000435817.6:c.828+81A>G ENSP00000399259.2:n.828+81A>G
ENST00000522126.5:c.600+81A>G ENSP00000427796.1:n.600+81A>G
ENST00000522386.1:n.434+81A>G
ENST00000522763.5:n.132+81A>G
ENST00000522783.5:c.822+81A>G ENSP00000428677.1:n.822+81A>G
ENST00000523856.5:n.86+81A>G
NM_033449.2:c.828+81A>G NP_258260.1:n.828+81A>G
XM_005268524.3:c.822+81A>G XP_005268581.1:n.822+81A>G
XM_006714803.2:c.699+81A>G XP_006714866.1:n.699+81A>G
XM_011537698.1:c.828+81A>G XP_011536000.1:n.828+81A>G
XM_011537699.1:c.828+81A>G XP_011536001.1:n.828+81A>G
XM_011537700.1:c.828+81A>G XP_011536002.1:n.828+81A>G
XM_011537701.1:c.828+81A>G XP_011536003.1:n.828+81A>G
XR_427781.2:n.882+81A>G
XR_944338.1:n.888+81A>G
XR_944339.1:n.888+81A>G
XM_005268524.5:c.822+81A>G XP_005268581.1:n.822+81A>G
XM_006714803.4:c.699+81A>G XP_006714866.1:n.699+81A>G
XM_011537698.3:c.828+81A>G XP_011536000.1:n.828+81A>G
XM_011537700.3:c.828+81A>G XP_011536002.1:n.828+81A>G
XM_011537701.3:c.828+81A>G XP_011536003.1:n.828+81A>G
XM_017010013.2:c.828+81A>G XP_016865502.1:n.828+81A>G
XR_002956197.1:n.824+81A>G
XR_427781.4:n.824+81A>G
XR_944338.3:n.903+81A>G
XR_944339.3:n.903+81A>G
NM_033449.3:c.828+81A>G MANE Select NP_258260.1:n.828+81A>G
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