Canonical Allele Identifier: CA107748813
Gene:

Linked Data

dbSNP Id: rs531126664
gnomAD v2: 4-145481004-A-G
gnomAD v3: 4-144559852-A-G
gnomAD v4: 4-144559852-A-G
MyVariant Identifiers: chr4:g.145481004A>G (hg19) chr4:g.144559852A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559852A>G , CM000666.2:g.144559852A>G GRCh38
NC_000004.11:g.145481004A>G , CM000666.1:g.145481004A>G GRCh37
NC_000004.10:g.145700454A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143874T>C ENSP00000497507.1:n.328-143874T>C
XR_939272.1:n.178+2132T>C
XR_939273.1:n.178+2132T>C
XR_939272.2:n.522+2132T>C
XR_939273.2:n.522+2132T>C
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