Canonical Allele Identifier: CA8644235
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50185830C>T
GRCh37 chr17:g.48263191C>T
Revel Score:
ENST00000225964 (MANE Select) 0.606
gnomAD v2:
17:48263191 C / T
gnomAD v3:
17:50185830 C / T
gnomAD v4:
chr17-50185830-C-T
Joint Max Group AF 0.00006048 (NFE)
Genomes Max Group AF 0.00001921 (AFR)
Exomes Max Group AF 0.00006322 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185830C>T , CM000679.2:g.50185830C>T GRCh38
NC_000017.10:g.48263191C>T , CM000679.1:g.48263191C>T GRCh37
NC_000017.9:g.45618190C>T NCBI36
NG_007400.1:g.20810G>A , LRG_1:g.20810G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4196G>A MANE Select ENSP00000225964.6:p.Arg1399His
ENST00000225964.9:c.4196G>A ENSP00000225964.5:p.Arg1399His
NM_000088.3:c.4196G>A , LRG_1t1:c.4196G>A NP_000079.2:p.Arg1399His
XM_005257058.3:c.3926G>A XP_005257115.2:p.Arg1309His
XM_005257059.3:c.3278G>A XP_005257116.2:p.Arg1093His
XM_011524341.1:c.3998G>A XP_011522643.1:p.Arg1333His
XM_005257058.4:c.3926G>A XP_005257115.2:p.Arg1309His
XM_005257059.4:c.3278G>A XP_005257116.2:p.Arg1093His
NM_000088.4:c.4196G>A MANE Select NP_000079.2:p.Arg1399His
Search 100 bp 5'
Search 100 bp 3'