Canonical Allele Identifier: CA274028557

Gene: FAH

Linked Data

• ClinVar Variation Id: 1237753
• ClinVar RCV Id: RCV001637301
• dbSNP Id: rs12439250
• gnomAD v2: 15-80464315-T-C
• gnomAD v3: 15-80171973-T-C
• gnomAD v4: 15-80171973-T-C
• MyVariant Identifiers: chr15:g.80464315T>C (hg19) ; chr15:g.80171973T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80171973T>C , CM000677.2:g.80171973T>C	GRCh38
NC_000015.9:g.80464315T>C , CM000677.1:g.80464315T>C	GRCh37
NC_000015.8:g.78251370T>C	NCBI36
NG_012833.1:g.23975T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.796-1041T>C
ENST00000561421.6:c.607-176T>C MANE Select	ENSP00000453347.2:n.607-176T>C
ENST00000646551.1:n.2234-189T>C
ENST00000261755.9:c.607-176T>C	ENSP00000261755.5:n.607-176T>C
ENST00000407106.5:c.607-176T>C	ENSP00000385080.1:n.607-176T>C
ENST00000539156.5:c.397-176T>C	ENSP00000454271.1:n.397-176T>C
ENST00000558627.1:n.535-176T>C
ENST00000561421.5:c.607-176T>C	ENSP00000453347.1:n.607-176T>C
NM_000137.2:c.607-176T>C	NP_000128.1:n.607-176T>C
XM_024449872.1:c.607-176T>C	XP_024305640.1:n.607-176T>C
NM_000137.4:c.607-176T>C MANE Select	NP_000128.1:n.607-176T>C
NM_001374377.1:c.607-176T>C	NP_001361306.1:n.607-176T>C
NM_001374380.1:c.607-176T>C	NP_001361309.1:n.607-176T>C