Canonical Allele Identifier: CA3893035
Gene: COL12A1 HGNC NCBI
ClinVar RCV:
RCV001592436
RCV001866218
ClinVar Variation:
1218594
dbSNP:
373739940
gnomAD v2:
6:75843126 C / T
gnomAD v3:
6:75133410 C / T
gnomAD v4:
chr6-75133410-C-T
Joint Max Group AF 0.00043913 (AFR)
Genomes Max Group AF 0.00045991 (AFR)
Exomes Max Group AF 0.00030242 (AFR)
MyVariant.info:
GRCh38 chr6:g.75133410C>T
GRCh37 chr6:g.75843126C>T
Revel Score:
ENST00000322507 (MANE Select) 0.490
ENST00000432784 0.490
ENST00000345356 0.490
ENST00000416123 0.490
ENST00000483888 0.490
ENST00000419671 0.649
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75133410C>T , CM000668.2:g.75133410C>T GRCh38
NC_000006.11:g.75843126C>T , CM000668.1:g.75843126C>T GRCh37
NC_000006.10:g.75899846C>T NCBI36
NG_042181.1:g.77498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.5677G>A MANE Select ENSP00000325146.8:p.Gly1893Arg
ENST00000322507.12:c.5677G>A ENSP00000325146.8:p.Gly1893Arg
ENST00000345356.10:c.2185G>A ENSP00000305147.9:p.Gly729Arg
ENST00000416123.6:c.5677G>A ENSP00000412864.2:p.Gly1893Arg
ENST00000419671.1:c.1880G>A
ENST00000483888.6:c.5677G>A ENSP00000421216.1:p.Gly1893Arg
ENST00000615798.4:c.2110G>A ENSP00000483232.1:p.Gly704Arg
NM_004370.5:c.5677G>A NP_004361.3:p.Gly1893Arg
NM_080645.2:c.2185G>A NP_542376.2:p.Gly729Arg
XM_011535434.1:c.5677G>A XP_011533736.1:p.Gly1893Arg
XM_011535435.1:c.5404G>A XP_011533737.1:p.Gly1802Arg
XM_011535436.1:c.2185G>A XP_011533738.1:p.Gly729Arg
XM_011535436.2:c.2185G>A XP_011533738.1:p.Gly729Arg
XM_017010252.2:c.5641G>A XP_016865741.1:p.Gly1881Arg
NM_004370.6:c.5677G>A MANE Select NP_004361.3:p.Gly1893Arg
NM_080645.3:c.2185G>A NP_542376.2:p.Gly729Arg
Search 100 bp 5'
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