Canonical Allele Identifier: CA996308523

Gene: ERCC1

Linked Data

• dbSNP Id: rs1967289662
• gnomAD v3: 19-45459377-A-G
• gnomAD v4: 19-45459377-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45459377A>G , CM000681.2:g.45459377A>G	GRCh38
NC_000019.9:g.45962635A>G , CM000681.1:g.45962635A>G	GRCh37
NC_000019.8:g.50654475A>G	NCBI36
NG_015839.2:g.24452T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000423698.6:c.-8+19359T>C	ENSP00000394875.2:n.-8+19359T>C
XM_005258636.3:c.-8+19359T>C	XP_005258693.1:n.-8+19359T>C
XM_005258636.4:c.-8+19359T>C	XP_005258693.1:n.-8+19359T>C
XM_017026464.1:c.-8+19359T>C	XP_016881953.1:n.-8+19359T>C