Canonical Allele Identifier: CA3258536
Gene: FGF10 HGNC NCBI

Linked Data

ClinVar Variation Id: 3006694
ClinVar RCV Id: RCV003861309
dbSNP Id: rs775751673
gnomAD v2: 5-44388448-T-G
gnomAD v4: 5-44388346-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.44388346T>G , CM000667.2:g.44388346T>G GRCh38
NC_000005.9:g.44388448T>G , CM000667.1:g.44388448T>G GRCh37
NC_000005.8:g.44424205T>G NCBI36
NG_011446.1:g.5337A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264664.5:c.325+12A>C MANE Select ENSP00000264664.4:n.325+12A>C
ENST00000264664.4:c.325+12A>C ENSP00000264664.4:n.325+12A>C
NM_004465.1:c.325+12A>C NP_004456.1:n.325+12A>C
XM_005248264.2:c.325+12A>C XP_005248321.1:n.325+12A>C
XM_005248264.4:c.325+12A>C XP_005248321.1:n.325+12A>C
NM_004465.2:c.325+12A>C MANE Select NP_004456.1:n.325+12A>C