Canonical Allele Identifier: CA552292757
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1383923432
gnomAD v2: 4-72650878-C-T
gnomAD v3: 4-71785161-C-T
gnomAD v4: 4-71785161-C-T
MyVariant Identifiers: chr4:g.72650878C>T (hg19) chr4:g.71785161C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71785161C>T , CM000666.2:g.71785161C>T GRCh38
NC_000004.11:g.72650878C>T , CM000666.1:g.72650878C>T GRCh37
NC_000004.10:g.72869742C>T NCBI36
NG_012837.2:g.25360G>A
NG_012837.3:g.25360G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000504199.5:c.22-1107G>A ENSP00000421725.1:n.22-1107G>A
ENST00000506245.1:c.-37+759G>A ENSP00000426718.1:n.-37+759G>A
NM_001204306.1:c.-36-1107G>A NP_001191235.1:n.-36-1107G>A
NM_001204307.1:c.22-1107G>A NP_001191236.1:n.22-1107G>A
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