Canonical Allele Identifier: CA8010652

Gene: SRCAP

Linked Data

• ClinVar Variation Id: 318855
• ClinVar RCV Id: RCV000964351 ; RCV002495004
• dbSNP Id: rs201397245
• ExAC: 16:30718497 T / C
• gnomAD v2: 16-30718497-T-C
• gnomAD v3: 16-30707176-T-C
• gnomAD v4: 16-30707176-T-C
• MyVariant Identifiers: chr16:g.30718497T>C (hg19) ; chr16:g.30707176T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30707176T>C , CM000678.2:g.30707176T>C	GRCh38
NC_000016.9:g.30718497T>C , CM000678.1:g.30718497T>C	GRCh37
NC_000016.8:g.30625998T>C	NCBI36
NG_032135.1:g.13036T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411466.7:c.307-7T>C	ENSP00000405186.3:n.307-7T>C
ENST00000706321.1:c.307-7T>C	ENSP00000516346.1:n.307-7T>C
ENST00000262518.9:c.307-7T>C MANE Select	ENSP00000262518.4:n.307-7T>C
ENST00000262518.8:c.307-7T>C	ENSP00000262518.4:n.307-7T>C
ENST00000380361.7:c.250-7T>C	ENSP00000369719.3:n.250-7T>C
NM_006662.2:c.307-7T>C	NP_006653.2:n.307-7T>C
NM_006662.3:c.307-7T>C MANE Select	NP_006653.2:n.307-7T>C