Canonical Allele Identifier: CA308974720
Gene: ERCC1 HGNC NCBI

Linked Data

dbSNP Id: rs11083770
gnomAD v2: 19-45962648-G-A
gnomAD v3: 19-45459390-G-A
gnomAD v4: 19-45459390-G-A
MyVariant Identifiers: chr19:g.45962648G>A (hg19) chr19:g.45459390G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45459390G>A , CM000681.2:g.45459390G>A GRCh38
NC_000019.9:g.45962648G>A , CM000681.1:g.45962648G>A GRCh37
NC_000019.8:g.50654488G>A NCBI36
NG_015839.2:g.24439C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000423698.6:c.-8+19346C>T ENSP00000394875.2:n.-8+19346C>T
XM_005258636.3:c.-8+19346C>T XP_005258693.1:n.-8+19346C>T
XM_005258636.4:c.-8+19346C>T XP_005258693.1:n.-8+19346C>T
XM_017026464.1:c.-8+19346C>T XP_016881953.1:n.-8+19346C>T
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