Canonical Allele Identifier: CA3894362
Gene: COL12A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.75189308C>T
GRCh37 chr6:g.75899024C>T
gnomAD v2:
6:75899024 C / T
gnomAD v3:
6:75189308 C / T
gnomAD v4:
chr6-75189308-C-T
Joint Max Group AF 0.00002154 (NFE)
Genomes Max Group AF 0.00002849 (NFE)
Exomes Max Group AF 0.00001914 (NFE)
ClinVar Allele:
699668
ClinVar RCV:
RCV000951947
RCV003424491
ClinVar Variation:
772402
dbSNP:
200141559
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75189308C>T , CM000668.2:g.75189308C>T GRCh38
NC_000006.11:g.75899024C>T , CM000668.1:g.75899024C>T GRCh37
NC_000006.10:g.75955744C>T NCBI36
NG_042181.1:g.21600G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.732G>A MANE Select ENSP00000325146.8:p.Val244=
ENST00000322507.12:c.732G>A ENSP00000325146.8:p.Val244=
ENST00000345356.10:c.73+13412G>A ENSP00000305147.9:n.73+13412G>A
ENST00000416123.6:c.732G>A ENSP00000412864.2:p.Val244=
ENST00000483888.6:c.732G>A ENSP00000421216.1:p.Val244=
ENST00000615798.4:c.-2836G>A ENSP00000483232.1:n.-2836G>A
NM_004370.5:c.732G>A NP_004361.3:p.Val244=
NM_080645.2:c.73+13412G>A NP_542376.2:n.73+13412G>A
XM_011535434.1:c.732G>A XP_011533736.1:p.Val244=
XM_011535435.1:c.732G>A XP_011533737.1:p.Val244=
XM_011535436.1:c.73+13412G>A XP_011533738.1:n.73+13412G>A
XM_011535436.2:c.73+13412G>A XP_011533738.1:n.73+13412G>A
XM_017010252.2:c.696G>A XP_016865741.1:p.Val232=
NM_004370.6:c.732G>A MANE Select NP_004361.3:p.Val244=
NM_080645.3:c.73+13412G>A NP_542376.2:n.73+13412G>A
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