Canonical Allele Identifier: CA4077911
Gene: FNDC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.159246936C>T
GRCh37 chr6:g.159667968C>T
Revel Score:
ENST00000297267 (MANE Select) 0.078
ENST00000340366 0.078
ENST00000329629 0.075
gnomAD v2:
6:159667968 C / T
gnomAD v3:
6:159246936 C / T
gnomAD v4:
chr6-159246936-C-T
Joint Max Group AF 0.00004369 (AFR)
Genomes Max Group AF 0.00007878 (AFR)
ClinVar RCV:
RCV004081208
ClinVar Variation:
2208841
dbSNP:
369115173
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159246936C>T , CM000668.2:g.159246936C>T GRCh38
NC_000006.11:g.159667968C>T , CM000668.1:g.159667968C>T GRCh37
NC_000006.10:g.159587958C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297267.14:c.4657C>T MANE Select ENSP00000297267.9:p.Pro1553Ser
ENST00000297267.13:c.4657C>T ENSP00000297267.9:p.Pro1553Ser
ENST00000329629.8:c.4343C>T
NM_032532.2:c.4657C>T NP_115921.2:p.Pro1553Ser
XM_011536190.1:c.4588C>T XP_011534492.1:p.Pro1530Ser
XM_011536191.1:c.4306C>T XP_011534493.1:p.Pro1436Ser
XM_011536190.2:c.4588C>T XP_011534492.1:p.Pro1530Ser
XM_011536191.2:c.4306C>T XP_011534493.1:p.Pro1436Ser
NM_032532.3:c.4657C>T MANE Select NP_115921.2:p.Pro1553Ser
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