Canonical Allele Identifier: CA3892185
Gene: COL12A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.75095118T>C
GRCh37 chr6:g.75804834T>C
Revel Score:
ENST00000322507 (MANE Select) 0.306
ENST00000425443 0.306
ENST00000432784 0.306
ENST00000345356 0.306
ENST00000416123 0.306
ENST00000483888 0.306
gnomAD v2:
6:75804834 T / C
gnomAD v3:
6:75095118 T / C
gnomAD v4:
chr6-75095118-T-C
Joint Max Group AF 0.00126414 (AMR)
Genomes Max Group AF 0.00113508 (AMR)
Exomes Max Group AF 0.00118989 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75095118T>C , CM000668.2:g.75095118T>C GRCh38
NC_000006.11:g.75804834T>C , CM000668.1:g.75804834T>C GRCh37
NC_000006.10:g.75861554T>C NCBI36
NG_042181.1:g.115790A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.8639A>G MANE Select ENSP00000325146.8:p.His2880Arg
ENST00000322507.12:c.8639A>G ENSP00000325146.8:p.His2880Arg
ENST00000345356.10:c.5147A>G ENSP00000305147.9:p.His1716Arg
ENST00000416123.6:c.8411A>G ENSP00000412864.2:p.His2804Arg
ENST00000425443.6:c.1553A>G ENSP00000399812.2:p.His518Arg
ENST00000483888.6:c.8627A>G ENSP00000421216.1:p.His2876Arg
ENST00000511023.1:n.254A>G
ENST00000615798.4:c.5072A>G ENSP00000483232.1:p.His1691Arg
NM_004370.5:c.8639A>G NP_004361.3:p.His2880Arg
NM_080645.2:c.5147A>G NP_542376.2:p.His1716Arg
XM_011535434.1:c.8639A>G XP_011533736.1:p.His2880Arg
XM_011535435.1:c.8366A>G XP_011533737.1:p.His2789Arg
XM_011535436.1:c.5147A>G XP_011533738.1:p.His1716Arg
XM_011535436.2:c.5147A>G XP_011533738.1:p.His1716Arg
XM_017010252.2:c.8603A>G XP_016865741.1:p.His2868Arg
NM_004370.6:c.8639A>G MANE Select NP_004361.3:p.His2880Arg
NM_080645.3:c.5147A>G NP_542376.2:p.His1716Arg
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