Canonical Allele Identifier: CA107748371
Gene:

Linked Data

dbSNP Id: rs1001388923
gnomAD v2: 4-145480339-T-C
gnomAD v3: 4-144559187-T-C
gnomAD v4: 4-144559187-T-C
MyVariant Identifiers: chr4:g.145480339T>C (hg19) chr4:g.144559187T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559187T>C , CM000666.2:g.144559187T>C GRCh38
NC_000004.11:g.145480339T>C , CM000666.1:g.145480339T>C GRCh37
NC_000004.10:g.145699789T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143209A>G ENSP00000497507.1:n.328-143209A>G
XR_939272.1:n.178+2797A>G
XR_939273.1:n.178+2797A>G
XR_939272.2:n.522+2797A>G
XR_939273.2:n.522+2797A>G
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