Canonical Allele Identifier: CA3480846

Gene: FCHSD1

Linked Data

• dbSNP Id: rs772634143
• ExAC: 5:141027049 G / A
• gnomAD v2: 5-141027049-G-A
• gnomAD v4: 5-141647482-G-A
• MyVariant Identifiers: chr5:g.141027049G>A (hg19) ; chr5:g.141647482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647482G>A , CM000667.2:g.141647482G>A	GRCh38
NC_000005.9:g.141027049G>A , CM000667.1:g.141027049G>A	GRCh37
NC_000005.8:g.141007233G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.744C>T MANE Select	ENSP00000399259.2:p.Pro248=
ENST00000435817.6:c.744C>T	ENSP00000399259.2:p.Pro248=
ENST00000522126.5:c.516C>T	ENSP00000427796.1:p.Pro172=
ENST00000522386.1:n.350C>T
ENST00000522763.5:n.48C>T
ENST00000522783.5:c.738C>T	ENSP00000428677.1:p.Pro246=
ENST00000523856.5:n.2C>T
NM_033449.2:c.744C>T	NP_258260.1:p.Pro248=
XM_005268524.3:c.738C>T	XP_005268581.1:p.Pro246=
XM_006714803.2:c.615C>T	XP_006714866.1:p.Pro205=
XM_011537698.1:c.744C>T	XP_011536000.1:p.Pro248=
XM_011537699.1:c.744C>T	XP_011536001.1:p.Pro248=
XM_011537700.1:c.744C>T	XP_011536002.1:p.Pro248=
XM_011537701.1:c.744C>T	XP_011536003.1:p.Pro248=
XR_427781.2:n.798C>T
XR_944338.1:n.804C>T
XR_944339.1:n.804C>T
XM_005268524.5:c.738C>T	XP_005268581.1:p.Pro246=
XM_006714803.4:c.615C>T	XP_006714866.1:p.Pro205=
XM_011537698.3:c.744C>T	XP_011536000.1:p.Pro248=
XM_011537700.3:c.744C>T	XP_011536002.1:p.Pro248=
XM_011537701.3:c.744C>T	XP_011536003.1:p.Pro248=
XM_017010013.2:c.744C>T	XP_016865502.1:p.Pro248=
XR_002956197.1:n.740C>T
XR_427781.4:n.740C>T
XR_944338.3:n.819C>T
XR_944339.3:n.819C>T
NM_033449.3:c.744C>T MANE Select	NP_258260.1:p.Pro248=