Canonical Allele Identifier: CA984452020
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1907647982
gnomAD v3: 17-50196997-A-G
gnomAD v4: 17-50196997-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196997A>G , CM000679.2:g.50196997A>G GRCh38
NC_000017.10:g.48274358A>G , CM000679.1:g.48274358A>G GRCh37
NC_000017.9:g.45629357A>G NCBI36
NG_007400.1:g.9643T>C , LRG_1:g.9643T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.804+13T>C MANE Select ENSP00000225964.6:n.804+13T>C
ENST00000225964.9:c.804+13T>C ENSP00000225964.5:n.804+13T>C
ENST00000495677.1:n.531+13T>C
NM_000088.3:c.804+13T>C , LRG_1t1:c.804+13T>C NP_000079.2:n.804+13T>C
XM_005257058.3:c.804+13T>C XP_005257115.2:n.804+13T>C
XM_005257059.3:c.804+13T>C XP_005257116.2:n.804+13T>C
XM_011524341.1:c.804+13T>C XP_011522643.1:n.804+13T>C
XM_005257058.4:c.804+13T>C XP_005257115.2:n.804+13T>C
XM_005257059.4:c.804+13T>C XP_005257116.2:n.804+13T>C
NM_000088.4:c.804+13T>C MANE Select NP_000079.2:n.804+13T>C
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