Canonical Allele Identifier: CA121275451

Gene: DHFR

Linked Data

• dbSNP Id: rs947107632
• gnomAD v2: 5-79924715-G-A
• gnomAD v3: 5-80628896-G-A
• gnomAD v4: 5-80628896-G-A
• MyVariant Identifiers: chr5:g.79924715G>A (hg19) ; chr5:g.80628896G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80628896G>A , CM000667.2:g.80628896G>A	GRCh38
NC_000005.9:g.79924715G>A , CM000667.1:g.79924715G>A	GRCh37
NC_000005.8:g.79960471G>A	NCBI36
NG_023304.1:g.31086C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000439211.7:c.*191C>T MANE Select	ENSP00000396308.2:n.*191C>T
ENST00000439211.6:c.*191C>T	ENSP00000396308.2:n.*191C>T
ENST00000504396.1:c.*191C>T	ENSP00000421334.1:n.*191C>T
ENST00000505337.5:c.*91C>T	ENSP00000426474.1:n.*91C>T
ENST00000511032.5:c.*249C>T	ENSP00000422732.1:n.*249C>T
ENST00000513048.5:n.636C>T
NM_000791.3:c.*191C>T	NP_000782.1:n.*191C>T
NM_001290354.1:c.*191C>T	NP_001277283.1:n.*191C>T
NM_001290357.1:c.*249C>T	NP_001277286.1:n.*249C>T
NR_110936.1:n.1070C>T
NM_000791.4:c.*191C>T MANE Select	NP_000782.1:n.*191C>T
NM_001290354.2:c.*191C>T	NP_001277283.1:n.*191C>T
NM_001290357.2:c.*249C>T	NP_001277286.1:n.*249C>T
NR_110936.2:n.1072C>T