Canonical Allele Identifier: CA3892023
Gene: COL12A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.75087675C>T
GRCh37 chr6:g.75797391C>T
Revel Score:
ENST00000322507 (MANE Select) 0.528
ENST00000425443 0.528
ENST00000432784 0.528
ENST00000345356 0.528
ENST00000416123 0.528
ENST00000483888 0.528
gnomAD v2:
6:75797391 C / T
gnomAD v3:
6:75087675 C / T
gnomAD v4:
chr6-75087675-C-T
Joint Max Group AF 0.00688787 (NFE)
Genomes Max Group AF 0.00705886 (NFE)
Exomes Max Group AF 0.00684805 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75087675C>T , CM000668.2:g.75087675C>T GRCh38
NC_000006.11:g.75797391C>T , CM000668.1:g.75797391C>T GRCh37
NC_000006.10:g.75854111C>T NCBI36
NG_042181.1:g.123233G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.9083G>A MANE Select ENSP00000325146.8:p.Arg3028His
ENST00000680981.1:n.492G>A
ENST00000681086.1:n.866G>A
ENST00000322507.12:c.9083G>A ENSP00000325146.8:p.Arg3028His
ENST00000345356.10:c.5591G>A ENSP00000305147.9:p.Arg1864His
ENST00000416123.6:c.8855G>A ENSP00000412864.2:p.Arg2952His
ENST00000425443.6:c.1997G>A ENSP00000399812.2:p.Arg666His
ENST00000483888.6:c.9071G>A ENSP00000421216.1:p.Arg3024His
ENST00000615798.4:c.5516G>A ENSP00000483232.1:p.Arg1839His
NM_004370.5:c.9083G>A NP_004361.3:p.Arg3028His
NM_080645.2:c.5591G>A NP_542376.2:p.Arg1864His
XM_011535434.1:c.9083G>A XP_011533736.1:p.Arg3028His
XM_011535435.1:c.8810G>A XP_011533737.1:p.Arg2937His
XM_011535436.1:c.5591G>A XP_011533738.1:p.Arg1864His
XM_011535436.2:c.5591G>A XP_011533738.1:p.Arg1864His
XM_017010252.2:c.9047G>A XP_016865741.1:p.Arg3016His
NM_004370.6:c.9083G>A MANE Select NP_004361.3:p.Arg3028His
NM_080645.3:c.5591G>A NP_542376.2:p.Arg1864His
Search 100 bp 5'
Search 100 bp 3'