Canonical Allele Identifier: CA128463317

Gene: FCHSD1

Linked Data

• dbSNP Id: rs190379795
• gnomAD v2: 5-141026886-T-C
• gnomAD v3: 5-141647319-T-C
• gnomAD v4: 5-141647319-T-C
• MyVariant Identifiers: chr5:g.141026886T>C (hg19) ; chr5:g.141647319T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647319T>C , CM000667.2:g.141647319T>C	GRCh38
NC_000005.9:g.141026886T>C , CM000667.1:g.141026886T>C	GRCh37
NC_000005.8:g.141007070T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000435817.7:c.828+79A>G MANE Select	ENSP00000399259.2:n.828+79A>G
ENST00000435817.6:c.828+79A>G	ENSP00000399259.2:n.828+79A>G
ENST00000522126.5:c.600+79A>G	ENSP00000427796.1:n.600+79A>G
ENST00000522386.1:n.434+79A>G
ENST00000522763.5:n.132+79A>G
ENST00000522783.5:c.822+79A>G	ENSP00000428677.1:n.822+79A>G
ENST00000523856.5:n.86+79A>G
NM_033449.2:c.828+79A>G	NP_258260.1:n.828+79A>G
XM_005268524.3:c.822+79A>G	XP_005268581.1:n.822+79A>G
XM_006714803.2:c.699+79A>G	XP_006714866.1:n.699+79A>G
XM_011537698.1:c.828+79A>G	XP_011536000.1:n.828+79A>G
XM_011537699.1:c.828+79A>G	XP_011536001.1:n.828+79A>G
XM_011537700.1:c.828+79A>G	XP_011536002.1:n.828+79A>G
XM_011537701.1:c.828+79A>G	XP_011536003.1:n.828+79A>G
XR_427781.2:n.882+79A>G
XR_944338.1:n.888+79A>G
XR_944339.1:n.888+79A>G
XM_005268524.5:c.822+79A>G	XP_005268581.1:n.822+79A>G
XM_006714803.4:c.699+79A>G	XP_006714866.1:n.699+79A>G
XM_011537698.3:c.828+79A>G	XP_011536000.1:n.828+79A>G
XM_011537700.3:c.828+79A>G	XP_011536002.1:n.828+79A>G
XM_011537701.3:c.828+79A>G	XP_011536003.1:n.828+79A>G
XM_017010013.2:c.828+79A>G	XP_016865502.1:n.828+79A>G
XR_002956197.1:n.824+79A>G
XR_427781.4:n.824+79A>G
XR_944338.3:n.903+79A>G
XR_944339.3:n.903+79A>G
NM_033449.3:c.828+79A>G MANE Select	NP_258260.1:n.828+79A>G