Canonical Allele Identifier: CA37665519

Gene: FAM177B

Linked Data

• dbSNP Id: rs893334575
• gnomAD v2: 1-222923369-A-T
• gnomAD v4: 1-222750027-A-T
• MyVariant Identifiers: chr1:g.222923369A>T (hg19) ; chr1:g.222750027A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222750027A>T , CM000663.2:g.222750027A>T	GRCh38
NC_000001.10:g.222923369A>T , CM000663.1:g.222923369A>T	GRCh37
NC_000001.9:g.220989992A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000445590.4:c.446A>T MANE Select	ENSP00000414451.2:p.Gln149Leu
ENST00000360827.6:c.446A>T	ENSP00000354070.2:p.Gln149Leu
ENST00000391880.6:c.*587A>T	ENSP00000375752.2:n.*587A>T
ENST00000445590.3:c.446A>T	ENSP00000414451.2:p.Gln149Leu
NM_207468.2:c.446A>T	NP_997351.2:p.Gln149Leu
XM_006711318.2:c.241+2946A>T	XP_006711381.1:n.241+2946A>T
NM_001324080.1:c.446A>T	NP_001311009.1:p.Gln149Leu
NR_136691.1:n.1216A>T
XM_017001279.1:c.446A>T	XP_016856768.1:p.Gln149Leu
XM_017001280.1:c.446A>T	XP_016856769.1:p.Gln149Leu
XM_017001281.1:c.446A>T	XP_016856770.1:p.Gln149Leu
XM_017001282.1:c.446A>T	XP_016856771.1:p.Gln149Leu
XM_017001285.1:c.274+2946A>T	XP_016856774.1:n.274+2946A>T
NM_001324080.2:c.446A>T	NP_001311009.1:p.Gln149Leu
NM_207468.3:c.446A>T	NP_997351.2:p.Gln149Leu
NR_136691.2:n.1230A>T
NM_001394345.1:c.446A>T MANE Select	NP_001381274.1:p.Gln149Leu