Canonical Allele Identifier: CA118160560
Gene: FGF10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1183828
ClinVar RCV Id: RCV001541753
dbSNP Id: rs17228255
gnomAD v2: 5-44305374-C-T
gnomAD v3: 5-44305272-C-T
gnomAD v4: 5-44305272-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.44305272C>T , CM000667.2:g.44305272C>T GRCh38
NC_000005.9:g.44305374C>T , CM000667.1:g.44305374C>T GRCh37
NC_000005.8:g.44341131C>T NCBI36
NG_011446.1:g.88411G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264664.5:c.430-80G>A MANE Select ENSP00000264664.4:n.430-80G>A
ENST00000264664.4:c.430-80G>A ENSP00000264664.4:n.430-80G>A
NM_004465.1:c.430-80G>A NP_004456.1:n.430-80G>A
XM_005248264.2:c.430-80G>A XP_005248321.1:n.430-80G>A
XM_005248264.4:c.430-80G>A XP_005248321.1:n.430-80G>A
NM_004465.2:c.430-80G>A MANE Select NP_004456.1:n.430-80G>A