Canonical Allele Identifier: CA14644404

Gene: ERCC1

Linked Data

• dbSNP Id: rs6509214
• gnomAD v2: 19-45981815-G-T
• gnomAD v3: 19-45478557-G-T
• gnomAD v4: 19-45478557-G-T
• MyVariant Identifiers: chr19:g.45981815G>T (hg19) ; chr19:g.45478557G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45478557G>T , CM000681.2:g.45478557G>T	GRCh38
NC_000019.9:g.45981815G>T , CM000681.1:g.45981815G>T	GRCh37
NC_000019.8:g.50673655G>T	NCBI36
NG_015839.2:g.5272C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000423698.6:c.-8+179C>A	ENSP00000394875.2:n.-8+179C>A
XM_005258636.3:c.-8+179C>A	XP_005258693.1:n.-8+179C>A
XM_005258636.4:c.-8+179C>A	XP_005258693.1:n.-8+179C>A
XM_017026464.1:c.-8+179C>A	XP_016881953.1:n.-8+179C>A