Canonical Allele Identifier: CA308974690
Gene: ERCC1 HGNC NCBI

Linked Data

dbSNP Id: rs147881675
gnomAD v2: 19-45962614-C-T
gnomAD v3: 19-45459356-C-T
gnomAD v4: 19-45459356-C-T
MyVariant Identifiers: chr19:g.45962614C>T (hg19) chr19:g.45459356C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45459356C>T , CM000681.2:g.45459356C>T GRCh38
NC_000019.9:g.45962614C>T , CM000681.1:g.45962614C>T GRCh37
NC_000019.8:g.50654454C>T NCBI36
NG_015839.2:g.24473G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000423698.6:c.-8+19380G>A ENSP00000394875.2:n.-8+19380G>A
XM_005258636.3:c.-8+19380G>A XP_005258693.1:n.-8+19380G>A
XM_005258636.4:c.-8+19380G>A XP_005258693.1:n.-8+19380G>A
XM_017026464.1:c.-8+19380G>A XP_016881953.1:n.-8+19380G>A
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