Canonical Allele Identifier: CA996308502

Gene: ERCC1

Linked Data

• dbSNP Id: rs2123651230
• gnomAD v3: 19-45459365-C-T
• gnomAD v4: 19-45459365-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45459365C>T , CM000681.2:g.45459365C>T	GRCh38
NC_000019.9:g.45962623C>T , CM000681.1:g.45962623C>T	GRCh37
NC_000019.8:g.50654463C>T	NCBI36
NG_015839.2:g.24464G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000423698.6:c.-8+19371G>A	ENSP00000394875.2:n.-8+19371G>A
XM_005258636.3:c.-8+19371G>A	XP_005258693.1:n.-8+19371G>A
XM_005258636.4:c.-8+19371G>A	XP_005258693.1:n.-8+19371G>A
XM_017026464.1:c.-8+19371G>A	XP_016881953.1:n.-8+19371G>A