Canonical Allele Identifier: CA15088662

Gene: INTS7

Linked Data

• dbSNP Id: rs2993536
• gnomAD v2: 1-212154930-A-G
• gnomAD v3: 1-211981588-A-G
• gnomAD v4: 1-211981588-A-G
• MyVariant Identifiers: chr1:g.212154930A>G (hg19) ; chr1:g.211981588A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211981588A>G , CM000663.2:g.211981588A>G	GRCh38
NC_000001.10:g.212154930A>G , CM000663.1:g.212154930A>G	GRCh37
NC_000001.9:g.210221553A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366994.8:c.1133-398T>C MANE Select	ENSP00000355961.3:n.1133-398T>C
ENST00000366992.7:c.1133-398T>C	ENSP00000355959.3:n.1133-398T>C
ENST00000366993.7:c.1133-398T>C	ENSP00000355960.3:n.1133-398T>C
ENST00000366994.7:c.1133-398T>C	ENSP00000355961.3:n.1133-398T>C
ENST00000440600.6:c.986-398T>C	ENSP00000388908.2:n.986-398T>C
ENST00000469606.5:c.*903-398T>C	ENSP00000481687.1:n.*903-398T>C
NM_001199809.1:c.986-398T>C	NP_001186738.1:n.986-398T>C
NM_001199811.1:c.1133-398T>C	NP_001186740.1:n.1133-398T>C
NM_001199812.1:c.1133-398T>C	NP_001186741.1:n.1133-398T>C
NM_015434.3:c.1133-398T>C	NP_056249.1:n.1133-398T>C
NR_037667.1:n.1390-398T>C
XM_011509396.1:c.1133-398T>C	XP_011507698.1:n.1133-398T>C
XM_011509397.1:c.1055-398T>C	XP_011507699.1:n.1055-398T>C
XM_011509396.2:c.1133-398T>C	XP_011507698.1:n.1133-398T>C
XM_017000962.1:c.1133-398T>C	XP_016856451.1:n.1133-398T>C
NM_015434.4:c.1133-398T>C MANE Select	NP_056249.1:n.1133-398T>C
NM_001199809.2:c.986-398T>C	NP_001186738.1:n.986-398T>C
NM_001199811.2:c.1133-398T>C	NP_001186740.1:n.1133-398T>C
NM_001199812.2:c.1133-398T>C	NP_001186741.1:n.1133-398T>C
NR_037667.2:n.1287-398T>C