Canonical Allele Identifier: CA12278431
Gene: FABP7 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.122783162G>T
GRCh37 chr6:g.123104307G>T
gnomAD v2:
6:123104307 G / T
gnomAD v3:
6:122783162 G / T
gnomAD v4:
chr6-122783162-G-T
Joint Max Group AF 0.44239372 (NFE)
Genomes Max Group AF 0.4366498 (NFE)
Exomes Max Group AF 0.4425884 (NFE)
dbSNP:
9490550
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.122783162G>T , CM000668.2:g.122783162G>T GRCh38
NC_000006.11:g.123104307G>T , CM000668.1:g.123104307G>T GRCh37
NC_000006.10:g.123146006G>T NCBI36
NG_050619.1:g.38962G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368444.8:c.349-555G>T MANE Select ENSP00000357429.3:n.349-555G>T
ENST00000368444.7:c.349-555G>T ENSP00000357429.3:n.349-555G>T
NM_001446.3:c.349-555G>T NP_001437.1:n.349-555G>T
NM_001319041.1:c.*2651G>T NP_001305970.1:n.*2651G>T
NM_001319042.1:c.337-555G>T NP_001305971.1:n.337-555G>T
NM_001446.4:c.349-555G>T NP_001437.1:n.349-555G>T
NM_001446.5:c.349-555G>T MANE Select NP_001437.1:n.349-555G>T
NM_001319041.2:c.*2651G>T NP_001305970.1:n.*2651G>T
NM_001319042.2:c.337-555G>T NP_001305971.1:n.337-555G>T
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