Canonical Allele Identifier: CA3893134
Gene: COL12A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.75134840G>A
GRCh38 chr6:g.75134840_75134843delinsATCC
GRCh37 chr6:g.75844556G>A
GRCh37 chr6:g.75844556_75844559delinsATCC
Revel Score:
ENST00000322507 (MANE Select) 0.234
ENST00000432784 0.234
ENST00000345356 0.234
ENST00000416123 0.234
ENST00000483888 0.234
ENST00000419671 0.146
gnomAD v2:
6:75844556 G / A
gnomAD v3:
6:75134840 G / A
gnomAD v4:
chr6-75134840-G-A
Joint Max Group AF 0.00032348 (SAS)
Genomes Max Group AF 0.00005284 (AMR)
Exomes Max Group AF 0.0003415 (SAS)
ClinVar Allele:
455923
ClinVar RCV:
RCV000559299
RCV001797105
ClinVar Variation:
475876
dbSNP:
201973949
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75134840G>A , CM000668.2:g.75134840G>A GRCh38
NC_000006.11:g.75844556G>A , CM000668.1:g.75844556G>A GRCh37
NC_000006.10:g.75901276G>A NCBI36
NG_042181.1:g.76068C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.5410C>T MANE Select ENSP00000325146.8:p.Arg1804Trp
ENST00000322507.12:c.5410C>T ENSP00000325146.8:p.Arg1804Trp
ENST00000345356.10:c.1918C>T ENSP00000305147.9:p.Arg640Trp
ENST00000416123.6:c.5410C>T ENSP00000412864.2:p.Arg1804Trp
ENST00000419671.1:c.1613C>T
ENST00000483888.6:c.5410C>T ENSP00000421216.1:p.Arg1804Trp
ENST00000615798.4:c.1843C>T ENSP00000483232.1:p.Arg615Trp
NM_004370.5:c.5410C>T NP_004361.3:p.Arg1804Trp
NM_080645.2:c.1918C>T NP_542376.2:p.Arg640Trp
XM_011535434.1:c.5410C>T XP_011533736.1:p.Arg1804Trp
XM_011535435.1:c.5137C>T XP_011533737.1:p.Arg1713Trp
XM_011535436.1:c.1918C>T XP_011533738.1:p.Arg640Trp
XM_011535436.2:c.1918C>T XP_011533738.1:p.Arg640Trp
XM_017010252.2:c.5374C>T XP_016865741.1:p.Arg1792Trp
NM_004370.6:c.5410C>T MANE Select NP_004361.3:p.Arg1804Trp
NM_080645.3:c.1918C>T NP_542376.2:p.Arg640Trp
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