Canonical Allele Identifier: CA1022878120
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1445805516
gnomAD v3: 21-45987791-G-T
gnomAD v4: 21-45987791-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987791G>T , CM000683.2:g.45987791G>T GRCh38
NC_000021.8:g.47407705G>T , CM000683.1:g.47407705G>T GRCh37
NC_000021.7:g.46232133G>T NCBI36
NG_008674.1:g.11043G>T , LRG_475:g.11043G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.804+137G>T MANE Select ENSP00000355180.3:n.804+137G>T
ENST00000361866.7:c.804+137G>T ENSP00000355180.3:n.804+137G>T
ENST00000612273.1:c.804+137G>T ENSP00000483630.1:n.804+137G>T
NM_001848.2:c.804+137G>T , LRG_475t1:c.804+137G>T NP_001839.2:n.804+137G>T
NM_001848.3:c.804+137G>T MANE Select NP_001839.2:n.804+137G>T
Search 100 bp 5'
Search 100 bp 3'