Canonical Allele Identifier: CA15370080
Gene: FGF10 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.44365443C>A
GRCh37 chr5:g.44365545C>A
gnomAD v2:
5:44365545 C / A
gnomAD v3:
5:44365443 C / A
gnomAD v4:
chr5-44365443-C-A
Joint Max Group AF 0.66525909 (NFE)
Genomes Max Group AF 0.66525909 (NFE)
ClinVar RCV:
RCV002200573
ClinVar Variation:
1663361
dbSNP:
2121875
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.44365443C>A , CM000667.2:g.44365443C>A GRCh38
NC_000005.9:g.44365545C>A , CM000667.1:g.44365545C>A GRCh37
NC_000005.8:g.44401302C>A NCBI36
NG_011446.1:g.28240G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264664.5:c.325+22915G>T MANE Select ENSP00000264664.4:n.325+22915G>T
ENST00000264664.4:c.325+22915G>T ENSP00000264664.4:n.325+22915G>T
NM_004465.1:c.325+22915G>T NP_004456.1:n.325+22915G>T
XM_005248264.2:c.325+22915G>T XP_005248321.1:n.325+22915G>T
XM_005248264.4:c.325+22915G>T XP_005248321.1:n.325+22915G>T
NM_004465.2:c.325+22915G>T MANE Select NP_004456.1:n.325+22915G>T
Search 100 bp 5'
Search 100 bp 3'