Canonical Allele Identifier: CA251512
Gene: FECH HGNC NCBI

Linked Data

ClinVar Variation Id: 554
ClinVar RCV Id: RCV000000584
dbSNP Id: rs118204040

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57551367A>C , CM000680.2:g.57551367A>C GRCh38
NC_000018.9:g.55218599A>C , CM000680.1:g.55218599A>C GRCh37
NC_000018.8:g.53369597A>C NCBI36
NG_008175.1:g.40371T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262093.11:c.1085T>G MANE Select ENSP00000262093.6:p.Val362Gly
ENST00000382873.8:c.869T>G ENSP00000372326.4:p.Val290Gly
ENST00000651787.1:n.1191T>G
ENST00000652755.1:c.1103T>G ENSP00000498358.1:p.Val368Gly
ENST00000262093.9:c.1085T>G ENSP00000262093.5:p.Val362Gly
ENST00000382873.7:c.1103T>G ENSP00000372326.3:p.Val368Gly
ENST00000585494.5:c.*812T>G ENSP00000465243.1:n.*812T>G
ENST00000591977.5:c.352T>G
NM_000140.3:c.1085T>G NP_000131.2:p.Val362Gly
NM_001012515.2:c.1103T>G NP_001012533.1:p.Val368Gly
XM_011525881.1:c.1004T>G XP_011524183.1:p.Val335Gly
XM_011525882.1:c.869T>G XP_011524184.1:p.Val290Gly
NM_000140.4:c.1085T>G NP_000131.2:p.Val362Gly
NM_001012515.3:c.1103T>G NP_001012533.1:p.Val368Gly
XM_011525882.2:c.869T>G XP_011524184.1:p.Val290Gly
XM_017025614.2:c.986T>G XP_016881103.1:p.Val329Gly
NM_000140.5:c.1085T>G MANE Select NP_000131.2:p.Val362Gly
NM_001012515.4:c.1103T>G NP_001012533.1:p.Val368Gly
NM_001371094.1:c.986T>G NP_001358023.1:p.Val329Gly
NM_001371095.1:c.869T>G NP_001358024.1:p.Val290Gly
NM_001374778.1:c.1078-521T>G NP_001361707.1:n.1078-521T>G