Canonical Allele Identifier: CA11967891
Gene: FGF10 HGNC NCBI
COSMIC:
COSN16968650 (not active)
MyVariant.info:
GRCh38 chr5:g.44352242T>C
GRCh37 chr5:g.44352344T>C
gnomAD v2:
5:44352344 T / C
gnomAD v3:
5:44352242 T / C
gnomAD v4:
chr5-44352242-T-C
Joint Max Group AF 0.6887185 (SAS)
Genomes Max Group AF 0.6887185 (SAS)
dbSNP:
1448037
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.44352242T>C , CM000667.2:g.44352242T>C GRCh38
NC_000005.9:g.44352344T>C , CM000667.1:g.44352344T>C GRCh37
NC_000005.8:g.44388101T>C NCBI36
NG_011446.1:g.41441A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264664.5:c.325+36116A>G MANE Select ENSP00000264664.4:n.325+36116A>G
ENST00000264664.4:c.325+36116A>G ENSP00000264664.4:n.325+36116A>G
NM_004465.1:c.325+36116A>G NP_004456.1:n.325+36116A>G
XM_005248264.2:c.325+36116A>G XP_005248321.1:n.325+36116A>G
XM_005248264.4:c.325+36116A>G XP_005248321.1:n.325+36116A>G
NM_004465.2:c.325+36116A>G MANE Select NP_004456.1:n.325+36116A>G
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