Canonical Allele Identifier: CA2662310826
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189007419-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007419G>T , CM000664.2:g.189007419G>T GRCh38
NC_000002.11:g.189872145G>T , CM000664.1:g.189872145G>T GRCh37
NC_000002.10:g.189580390G>T NCBI36
NG_007404.1:g.38047G>T , LRG_3:g.38047G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3157-81G>T ENSP00000415346.2:n.3157-81G>T
ENST00000304636.9:c.3256-81G>T MANE Select ENSP00000304408.4:n.3256-81G>T
ENST00000304636.7:c.3256-81G>T ENSP00000304408.3:n.3256-81G>T
ENST00000317840.9:c.2528-635G>T ENSP00000315243.6:n.2528-635G>T
NM_000090.3:c.3256-81G>T , LRG_3t1:c.3256-81G>T NP_000081.1:n.3256-81G>T
NM_000090.4:c.3256-81G>T MANE Select NP_000081.2:n.3256-81G>T
Search 100 bp 5'
Search 100 bp 3'