Canonical Allele Identifier: CA15902775
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 674976
ClinVar RCV Id: RCV000834305
dbSNP Id: rs2075554
gnomAD v2: 17-48274309-T-C
gnomAD v3: 17-50196948-T-C
gnomAD v4: 17-50196948-T-C
MyVariant Identifiers: chr17:g.48274309T>C (hg19) chr17:g.50196948T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196948T>C , CM000679.2:g.50196948T>C GRCh38
NC_000017.10:g.48274309T>C , CM000679.1:g.48274309T>C GRCh37
NC_000017.9:g.45629308T>C NCBI36
NG_007400.1:g.9692A>G , LRG_1:g.9692A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.804+62A>G MANE Select ENSP00000225964.6:n.804+62A>G
ENST00000225964.9:c.804+62A>G ENSP00000225964.5:n.804+62A>G
ENST00000495677.1:n.531+62A>G
NM_000088.3:c.804+62A>G , LRG_1t1:c.804+62A>G NP_000079.2:n.804+62A>G
XM_005257058.3:c.804+62A>G XP_005257115.2:n.804+62A>G
XM_005257059.3:c.804+62A>G XP_005257116.2:n.804+62A>G
XM_011524341.1:c.804+62A>G XP_011522643.1:n.804+62A>G
XM_005257058.4:c.804+62A>G XP_005257115.2:n.804+62A>G
XM_005257059.4:c.804+62A>G XP_005257116.2:n.804+62A>G
NM_000088.4:c.804+62A>G MANE Select NP_000079.2:n.804+62A>G
Search 100 bp 5'
Search 100 bp 3'